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| viewport | width=device-width, initial-scale=1 |
| X-UA-Compatible | IE=edge |
| charset | UTF-8 |
| Jerarquía de encabezados | Contenido |
|---|---|
| H1 | Genomics England PanelApp |
| H1 | Encabezado vacío |
| H1 | Disclaimer |
| H1 | PanelApp News |
| H1 | 09.04.2019 Genomics England PanelApp software is now open source! |
| H1 | PanelApp Upgrade Release v2.3.0 |
| H1 | 06.11.2017 We launch a new and improved release of PanelApp! |
| H1 | Navigate and Explore PanelApp |
| H1 | PanelApp Reviewers |
| H1 | PanelApp Gene Panel Guidelines |
| H1 | How to rate the genes |
| H1 | Genomics England Gene Panel Principles for Rare Diseases in the 100,000 Genomes Project |
| H1 | PanelApp API |
| H1 | PanelApp Frequently Asked Questions |
| H1 | Contact PanelApp |
| H1 | Citing PanelApp |
| H1 | Terms of Use |
| H1 | Acknowledgements |
| H1 | PanelApp Glossary |
| H1 | Retired panels |
| H2 | PanelApp and the NHS Genomic Medicine Service (GMS) Panels Resource |
| H2 | 29th July 2021: New PanelApp publication |
| H2 | May 2021: NHS GMS Panels Resource Now Available! |
| H2 | What is PanelApp? |
| H2 | PanelApp Accreditation |
| H2 | Types of PanelApp Gene Panels |
| H2 | How Gene Panels were Defined and Created for the 100,000 Genomes Project |
| H2 | Defining panels for the NHS Genomic Medicine Service |
| H2 | Entities on a Gene Panel |
| H2 | Understanding Gene Ratings on a Version 1+ Gene Panel |
| H2 | How Do I Add Genes, Genomic Entities and Reviews to a Gene Panel? |
| H2 | Uses and Users of PanelApp |
| H2 | 7th August 2024: Updates to GMS panels |
| H2 | 1st May 2024: Updates to GMS panels |
| H2 | 20th December 2023: Updates to small non-WGS panels |
| H2 | 14th September 2023: Addition of single gene tests and small non-WGS panels |
| H2 | 22nd March 2023: Update of GMS panels |
| H2 | 30th November 2022: New GMS panel versions signed-off |
| H2 | 29th July 2021: New PanelApp publication Texto duplicado |
| H2 | May 2021: NHS GMS Panels Resource Now Available! Texto duplicado |
| H2 | 5th May 2021: PanelApp has been successfully upgraded to v3.2.0 |
| H2 | 22nd February 2021: An updated Genomic Imprinting gene panel is available in PanelApp |
| H2 | 21st August 2020: PanelApp reaches 5 years old! |
| H2 | 27th July 2020: PanelApp has been successfully upgraded to v3.1.2 |
| H2 | June 2020 statistics |
| H2 | May 2020 statistics |
| H2 | The Genomics England Covid-19 version 1.0 research gene panel |
| H2 | PanelApp Journal Review |
| H2 | Can you review our curated COVID-19 research gene panel in PanelApp? |
| H2 | April 2020 statistics |
| H2 | Star Reviewer: Dr Helen Brittain |
| H2 | Viral susceptibility panel |
| H2 | March 2020 statistics |
| H2 | February 2020 statistics |
| H2 | Rare Disease Day 2020 |
| H2 | January 2020 statistics |
| H2 | 5th Feb 2020: PanelApp has been successfully upgraded to v3.1.1. |
| H2 | 27th Jan 2020: PanelApp has been successfully upgraded to v3.1.0. |
| H2 | 21st Jan 2020 Panel Swap! |
| H2 | December 2019 statistics |
| H2 | 17th Dec 2019 Australian Genomics launches local instance of PanelApp |
| H2 | 16th December 2019: Spectrum news article |
| H2 | November statistics |
| H2 | 1st November 2019: PanelApp publication out! |
| H2 | October statistics |
| H2 | Star Reviewer: A/Prof. Zornitza Stark |
| H2 | September statistics |
| H2 | 23.09.2019 New PanelApp Handbook |
| H2 | A Fetal anomalies Virtual Gene Panel for the Genomic Medicine Service. |
| H2 | August statistics: |
| H2 | 21st August 2019: Today is PanelApp's 4th Birthday! |
| H2 | 20th August 2019: PanelApp has successfully been upgraded to v3.0.0 and is now on Amazon Web Services Native Cloud. |
| H2 | July statistics |
| H2 | 31th July 2019: ACGS conference 2019 summary |
| H2 | 29th July 2019: PanelApp upgrade to v2.4.2 |
| H2 | 1st July 2019: PanelApp Web Requests |
| H2 | 20th June 2019: New release of PanelApp! |
| H2 | 10th-11th June: ACGS conference 2019 |
| H2 | 29th May - 31st May: Curating the Clinical Genome 2019 |
| H2 | Collaborating with the Curation Community at the 12th International Biocuration Conference, April 7-10th 2019. |
| H2 | This comprises of: |
| H2 | New Features: |
| H2 | Browsing PanelApp as a Public User |
| H2 | Desired reviewer experience |
| H2 | What can Reviewers do on PanelApp? |
| H2 | What are we asking of reviewers? |
| H2 | Instructions for registering to be a reviewer |
| H2 | How to make a review |
| H2 | How to view your evaluations |
| H2 | Reviewing STRs and CNVs. |
| H2 | Considerations when reviewing |
| H2 | Sources of information |
| H2 | PanelApp contributors |
| H2 | Level 4 title, Level 3 title, Level 2 title |
| H2 | Panel Type |
| H2 | Relevant disorders |
| H2 | Eligibility statement |
| H2 | Entity |
| H2 | STR |
| H2 | CNV |
| H2 | Gene Symbol |
| H2 | Gene Name |
| H2 | Gel Status |
| H2 | Mode of Inheritance |
| H2 | Phenotypes |
| H2 | OMIM |
| H2 | ClinVar Variants |
| H2 | Penetrance |
| H2 | Publications |
| H2 | Mode of Pathogenicity |
| H2 | SO Terms and descriptions |
| H2 | This gene appears in other panels |
| H2 | Rating Summary |
| H2 | Gene History/Genomic Entity History |
| H2 | Current diagnostic |
| H2 | Tags |
| H3 | Find out more about PanelApp |
| H3 | I am a Clinician or other Healthcare Professional... |
| H3 | I am a Researcher... |
| H3 | I am a Bioinformatician |
| H3 | Follow @PanelAppTeam #PanelApp on Twitter panelapp twitter logo |
| H3 | Figure 1: Review tool |
| H3 | Figure 2: map of PanelApp users in the last month |
| H3 | Figure 3: traffic light system for evidence level of gene-disease |
| H3 | 01.04.2019 PanelApp is heading to the 12th International Biocuration Conference Next Week |
| H3 | 29.03.2019 PanelApp update of user statistics |
| H3 | 27.03.2019 PanelApp is at the Genomics of Rare Disease conference |
| H3 | 29.01.2019 PanelApp is upgraded from to v2.3.4 |
| H3 | 11.01.2019 A Reviewer's Guide To PanelApp |
| H3 | 12.12.2018 Thank you! We have completed all the Version 1+ gene panels required to cover all the rare diseases in the 100,000 Genomes Project! #100KThankYous |
| H3 | 12.12.2018 The Genetic epilepsy syndromes panel is now version 1 |
| H3 | 11.12.2018 The Limb disorders gene panel is now version 1. |
| H3 | 10.12.2018 The Pancreatitis gene panel is now version 1 |
| H3 | 30.11.2018 The gene panel for Polycystic liver disease is now Version 1! |
| H3 | 20.11.2018 Short QT syndromes for rare diseases is now Version 1. |
| H3 | 8.11.2018 Non-syndromic familial congenital anorectal malformations for rare disease is now Version 1. |
| H3 | 11.10.2018 New PanelApp Handbook |
| H3 | 02.10.2018 . We have been busy updating panels in PanelApp last month. Here's a summary of panel updates for September 2018: |
| H3 | Copy Number Variants |
| H3 | Panel Types |
| H3 | Super panels |
| H3 | Activity |
| H3 | 5.09.2018 PanelApp will be upgraded from v2.20 to v2.30 from 10am - 12pm (BST) this Friday, September 7th. Panelapp will not be accessible during this time. |
| H3 | 3.09.2018 Neonatal cholestasis for rare disease is now Version 1. |
| H3 | 12.07.2018 Primary immunodeficiency disorders for rare disease is now Version 1 |
| H3 | 09.04.2018 Biocuration 2018 |
| H3 | 27.03.2018 Our Scientific Curator Olivia Niblock presented a poster at the Genomics of Rare Disease conference |
| H3 | 27.03.2018 Familial Meniere Disease panel for rare disease is now Version 1 |
| H3 | 23.03.2018 New diagnostic-grade gene panel available |
| H3 | 12.03.2018 ID Gene Panel Update Phase III |
| H3 | 07.03.2018 Panelapp was upgraded to v2.1.2. |
| H3 | 05.03.2018 The Adult solid tumours gene panel for rare disease is now Version 1 |
| H3 | 28.02.2018 PanelApp now on Twitter |
| H3 | 02.02.2018 Amelogenesis Imperfecta panel promoted to version 1 |
| H3 | 20.01.2018 View and filter updates to PanelApp on the Activity page |
| H3 | 23.01.2018 Congratulations to our new Curator Eleanor Williams who has been awarded this year's Biocuration Society Career Award! |
| H3 | 18.01.2018 PanelApp presented at the Pan Arab Human Genetics Conference 2018 |
| H3 | 05.01.2018 Intellectual disability gene panel update Phase II |
| H3 | 03.01.2018 EDS Society news post regarding PanelApp |
| H3 | PanelApp holiday closure Friday 22nd December 2017 to 2nd January 2018 |
| H3 | 15.12.2017 Primary Membranoproliferative Glomerulonephritis promoted |
| H3 | 29.11.2017 Major update to the Intellectual disability gene panel |
| H3 | 17.11.2017 New gene panels |
| H3 | What's new? |
| H3 | A simpler URL https://panelapp.genomicsengland.co.uk |
| H3 | Both Genome build GRCh38 and GRCh37 are supported |
| H3 | Improved page loading and greatly improved response times |
| H3 | Improvements to the registration process |
| H3 | 02.11.2017 A summary of updates to Version 1 panels in October |
| H3 | 30.10.2017: PanelApp Update: 167 diagnostic-grade (Version 1+) panels |
| H3 | 20.10.2017 A summary of updates to panels in September |
| H3 | 19.09.2017: Diagnostic-grade Pain syndromes gene panel released |
| H3 | 29.08.2017: PanelApp Update: 165 diagnostic-grade (Version 1+) panels |
| H3 | 31.07.2017: PanelApp Update |
| H3 | 27.07.2017: Hirschsprung's disease in the 100,000 Genomes Project. |
| H3 | 26.07.2017: 19 gene panels launched for reporting pertinent findings in cancer germline genomes |
| H3 | 20.07.2017: Two skin panels promoted to Version 1 |
| H3 | 04.07.2017: Latest update of Rare Disease Eligibility Criteria V1.7.2 |
| H3 | 28.06.2017: PanelApp Presentation |
| H3 | 26.06.2017: PanelApp Update: |
| H3 | 15.06.2017: Expert review needed for skin disorder gene panels: |
| H3 | 06.06.2017: Version 1+ gene panels are ready for patient interpretation! |
| H3 | 31.05.17: Promotion of 6 gene panels to version 1 - now available for genome interpretation |
| H3 | 23.05.17: The latest panel requiring external review is Inherited non-medullary thyroid cancer. Please contact us if you think that you could help with this. |
| H3 | 23.05.17: Diagnostic-grade panel for Radial dysplasia |
| H3 | 15.05.17: Learn more about PanelApp in this blog by James Hadfield |
| H3 | Panels requiring external expert review (8th May 2017): |
| H3 | 14.05.17: A unified GI tract panel |
| H3 | 10.05.17: 153 Version 1+ panels! |
| H3 | 08.05.17: 151 Version 1+ panels! |
| H3 | 150 Version 1+ panels! |
| H3 | 02.05.17 PanelApp update |
| H3 | Our 6th Gene Panel Curation Day |
| H3 | 25.04.17 PanelApp update |
| H3 | 18.04.17 PanelApp update |
| H3 | 12.04.17 PanelApp webservices (API) are available to query using the examples available on the PanelApp How To tab. |
| H3 | 10.04.17 PanelApp update |
| H3 | 06.04.17 Rebecca is presenting the poster "PanelApp: A Key Resource for the Rare Disease Community" at the 'Genomics of Rare Disease' conference, Wellcome Genome Campus, Hinxton today (Poster 14) #... |
| H3 | 03.04.17 PanelApp update |
| H3 | 29.03.17 "The Impact of Community Curation on Rare Disease Diagnosis" was presented at the 10th International Biocuration Conference, Stanford University by Ellen McDonagh |
| H3 | 21.03.17 PanelApp update |
| H3 | 13.03.17 PanelApp update |
| H3 | 06.03.17 PanelApp update |
| H3 | 23.02.17 PanelApp update |
| H3 | 22.02.17 Our 5th Gene Panel Curation Day |
| H3 | 17.02.17 PanelApp Update |
| H3 | 08.02.17 BRIDGE consortium Tier 1 genes from NIHR BioResource - Rare Diseases Study (NIHRBR-RD) added to PanelApp |
| H3 | 07.02.17 BRIDGE consortium Tier 1 genes from NIHR BioResource - Rare Diseases Study (NIHRBR-RD) added to PanelApp |
| H3 | 06.02.17 We now have 500 registered reviewers! |
| H3 | 27.01.17 PanelApp Update |
| H3 | 24.01.17 The Ehlers-Danlos syndromes panel was created. |
| H3 | 23.01.17 Three new disorders have been added to the rare disease list for the 100,000 Genome Project |
| H3 | 17.01.17 Our first version 2 panel is realised |
| H3 | 10.01.17 PanelApp Update |
| H3 | 03.01.17 Happy New Year to our PanelApp users! |
| H3 | 19.12.16 The 4th PanelApp Gene Panel Curation Day |
| H3 | 05.12.16 PanelApp update |
| H3 | 18.11.16 We now have 100 version 1 gene panels! The green genes from these panels are being used to help prioritise variants within patient genomes recruited for the 100,000 Genomes Project. |
| H3 | 14.11.16 Our curation team is expanding! |
| H3 | 26.10.16 We now have 95 version 1 gene panels! The green genes from these panels are being used to help prioritise variants within patient genomes recruited for the 100,000 Genomes Project. |
| H3 | 06.10.16 We now have 90 version 1 gene panels, of which the green genes are being used to analyse genomes of participants recruited in the 100,000 Genomes Project |
| H3 | 27.09.16 PanelApp was presented both in the UK and in California today |
| H3 | 26.09.16 PanelApp was presented in a talk at Stanford University, California, by Ellen McDonagh, in a presentation about the 100,000 Genomes Project. |
| H3 | 22.09.16 An overview of the 100,000 Genomes Project was presented by Ellen McDonagh at Genentech, South San Francisco, California, with a focus on the role of the Bioinformatics team and how gene p... |
| H3 | 20.09.16 Ellen McDonagh presented the role of PanelApp as part of a panel discussion about crowdsourcing resources in genomics at the Festival of Genomics, San Diego, California. |
| H3 | 16.09.16 PanelApp and an overview of the 100,000 Genomes project was presented by Ellen McDonagh to the Illumina Curation Team, Santa Clara, California. |
| H3 | 13.09.16 We now have 87 Version 1 panels! |
| H3 | 23.08.16 Updates to Version 1+ panels |
| H3 | 22.08.16 Happy Birthday PanelApp! |
| H3 | 15.08.16 We have 83 Version 1 panels, covering 102 disorders. |
| H3 | 11.08.16 An update about PanelApp will be presented at the UKGTN meeting today, by Ellen McDonagh. |
| H3 | 10.08.16 We now have an Activity page, displaying changes made to panels and when reviews are made. |
| H3 | 20.07.16 New features have been added to PanelApp, and improvements to usability have been made! |
| H3 | 22.06.16 PanelApp is presented at the Curating The Clinical Genome conference 2016 by Ellen McDonagh. |
| H3 | 06.06.16 We now have 60 Version 1 gene panels! |
| H3 | 02.06.16 The UKGTN contacted diagnostic lab heads endorsing PanelApp, requesting that labs submitting new NGS gene panel tests confirm the status of genes on PanelApp when relevant diseases are ava... |
| H3 | 23.05.16 PanelApp was presented at the Pint of Science Festival to an audience in the Crown Pub in Clerkenwell, London, by Ellen McDonagh. |
| H3 | 05.05.16 PanelApp was presented by Dr Katherine Smith at The European School of Genetic Medicine and European Society of Human Genetics Course in Next Generation Sequencing, Bertinoro di Romagna (I... |
| H3 | 26.04.16 PanelApp Update |
| H3 | 18.04.16 Additional webservices are available, allowing you to search PanelApp by gene: |
| H3 | 15.04.16 PanelApp is now one of the databases included on the BioSharing site. |
| H3 | 12.04.16 A talk on PanelApp was given at the 9th International Biocuration Conference in Geneva by Ellen McDonagh. |
| H3 | 08.04.16 PanelApp website is now available within the N3 network, and so issues accessing it within the NHS should now be resolved. |
| H3 | 05.04.16 The BRCA1 gene within the intellectual disability panel was demoted from green to red. |
| H3 | 30.03.16 Update on changes to gene panels |
| H3 | 24.03.16 Update on changes to gene panels |
| H3 | 14.03.16 Please be aware that PanelApp was experiencing technical issues and may have been unavailable to users. |
| H3 | 29.02.16 Rare Disease Day |
| H3 | 23.02.16 PanelApp was included in a presentation by Dr Emma Baple at the NHS Genomics Medicine Centre (GMC) National Event. |
| H3 | 19.02.16 Gene panel news |
| H3 | 18.02.16: We now have 300 registered reviewers! |
| H3 | 11.02.16 Update on changes to gene panels |
| H3 | 10.02.16 Vimeo videos are now available that provide an introduction to PanelApp, and instructions for reviewing gene panels on PanelApp. |
| H3 | 19.01.16: PanelApp webservices are now available to query using the following examples... |
| H3 | 11.01.16: Initial gene panels for new nominated rare diseases. |
| H3 | 08.01.16: Changes to some eligibility statements, and new gene panels added. |
| H3 | 18.12.15: PanelApp is presented to Dame Una O’Brien, Permanent Secretary at the Department of Health. |
| H3 | 15.12.15: A new look for PanelApp is launched to make viewing and reviewing gene panels easier. |
| H3 | 10.12.15: A gene panel for undiagnosed neurocutaneous disorders has been added to PanelApp. |
| H3 | 07.12.15: We now have 250 reviewers registered! |
| H3 | 19.11.15: Gene panels for the following new rare disorders have been added to PanelApp: |
| H3 | 03.11.15: Gene panels for the following new rare disorders have been added to PanelApp: |
| H3 | 02.11.15: Gene panels are now available to review for the following new rare disorders: |
| H3 | 26.10.15: Read a blog by the PHG Foundation PanelApp – the catalyst to drive improved gene panel testing? |
| H3 | 24.10.15: OpenHelix Video Tip of the Week: PanelApp, from the 100,000 Genomes Project |
| H3 | 23.10.15: Presentation at the Italian Society of Human Genetics National Congress, Rimini (Ellen McDonagh). |
| H3 | 23.10.15: Presentation at the Cardiovascular GeCIP Domain Meeting, London (Augusto Rendon) |
| H3 | 22.10.15: We now have 200 experts registered! |
| H3 | 21.10.15: Presentation at the GMC/GeCIP Event, London (Ellen McDonagh). |
| H3 | 16.10.15: Listen to this week's RARECast (Global Genes) podcast featuring an interview about PanelApp. |
| H3 | 15.10.15: PanelApp software version has been updated, making downloads much faster! |
| H3 | 01.10.15: PanelApp update |
| H3 | 30.09.15: We now have over 100 reviewers registered! |
| H3 | 24.09.15: Thank you to all reviews that have been made so far! |
| H3 | 23.09.15: PanelApp videos are now available on Vimeo; introductory video to PanelApp, and a video to help Expert Reviewers. |
| H3 | 11.09.15: PanelApp videos released |
| H3 | 09.09.15: Read an article by the PHG Foundation regarding PanelApp |
| H3 | 08.09.15: The PanelApp Handbook PDF is now available from the homepage. |
| H3 | 02.09.15: PanelApp Update |
| H3 | 25.08.15: PanelApp presentation at the NHS GMC National Event. |
| H3 | 21.08.15: PanelApp is piloted. Version 0 of the gene panels are released for public view and for expert review. |
| H3 | 09.04.15: The first line of code for PanelApp is created. |
| H3 | Public users can: |
| H3 | Public users cannot: |
| H3 | Reviewers can: |
| H3 | Browsing Panels in PanelApp (a Panel-Centric View) |
| H3 | Browsing Genes in PanelApp (a Gene-Centric View) |
| H3 | Browsing STRs and CNVs in PanelApp from the 'Genes and Entities list. |
| H3 | Downloading Gene Panels |
| H3 | For more detailed guidance about navigating PanelApp please download our |
| H3 | Log in |
| H3 | Read information about PanelApp |
| H3 | Find gene panels |
| H3 | Read the eligibility statement for the rare disease |
| H3 | Review the genes in the gene panel |
| H3 | Provide a rating |
| H3 | Provide mode of inheritance |
| H3 | Provide mode of pathogenicity |
| H3 | Provide additional information to support your review |
| H3 | Add genes to the Panel |
| H3 | The 4 sources used in the initial establishment of gene lists are: |
| H3 | Other databases used as resources used for some phenotype, gene or mode of inheritance information and to aid the curation process: |
| H3 | Other sources of gene lists |
| H3 | CNV and STR information |
| H3 | Link outs from PanelApp |
| H3 | Other source types: |
| H3 | OMIM SYMBOLS |
| H4 | Read our new publication PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels |
| H4 | In her Keynote talk at the Biocuration 2019 conference, our Head of Curation & Pharmacogenomics Dr Ellen McDonagh announced that the PanelApp software code is now open source and available in GitHub. |
| H4 | Why gene panels? |
| H4 | Why are you asking experts to review the gene panels? |
| H4 | Can experts not in the UK or not directly involved in the 100,000 Genomes Project be a reviewer? |
| H4 | As an expert reviewer, how do I rate the genes? |
| H4 | Review Scenerios |
| H4 | What will the gene panels and information I provide be used for? |
| H4 | Who will be able to access the gene panels? |
| H4 | Will the gene panels change? |
| H4 | What is recorded when I make my evaluation? |
| H4 | Am I able to change my reviewer evaluations? |
| H4 | Who will be assessing the evaluations? |
| H4 | How will reviews be assessed/conflicting reviews resolved? |
| H4 | Can I send the link to others so that they can review/download panels? |
| H4 | When I register as a reviewer, where are my details kept and who has access? |
| H4 | Where can I keep up to date with major changes or news regarding PanelApp? |
| H4 | Can I submit my own gene panels? |
| Enlace | Propiedades | Texto ancla |
|---|---|---|
| / | PanelApp | |
| /panels/ | Panels | |
| /panels/entities/ | Genes and Entities | |
| /panels/activity/ | Activity | |
| /accounts/login/?next=/ | Log in | |
| /accounts/registration/ | Register | |
| https://www.england.nhs.uk/pub... | Externo Subdominio | NHS National Genomic Test Directory |
| https://www.genomicsengland.co... | Externo Subdominio | 100,000 Genomes Project |
| https://nhsgms-panelapp.genomi... | Externo Subdominio | NHS GMS Panels Resource |
| https://www.ukas.com/ | Externo Subdominio | UKAS ISO 15189 accreditation |
| https://nhsgms-panelapp.genomi... | Externo Subdominio Texto duplicado | NHS GMS Panels Resource |
| /media/files/PanelApp_Handbook... | PanelApp Handbook V35 | |
| https://panelapp.agha.umccr.org/ | Externo Subdominio | PanelApp Australia |
| https://www.sciencedirect.com/... | Externo Subdominio | Scaling national and international improvement in virtual gene panel curation using a collaborative approach to discordance resolution, AJHG, 2021 |
| https://nhsgms-panelapp.genomi... | Externo Subdominio | NHS Genomic Medicine Service (GMS) Panels Resource |
| https://www.england.nhs.uk/pub... | Externo Subdominio Texto duplicado | NHS National Genomic Test Directory |
| https://www.england.nhs.uk/gen... | Externo Subdominio | updating the NHS National Genomic Test Directory webpage. |
| https://nhsgms-panelapp.genomi... | Externo Subdominio | Click here to go to the NHS GMS Panels Resource |
| https://www.genomicsengland.co... | Externo Subdominio | Genomics England |
| https://www.nature.com/article... | Externo Subdominio | PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels |
| /media/files/PanelApp_Handbook... | Texto duplicado | PanelApp Handbook V35 |
| /media/files/PanelApp_Reviewer... | PanelApp Reviewer's Guide | |
| https://vimeo.com/album/475429... | Externo | PanelApp Videos |
| /accounts/registration/ | Subdominio | to be a reviewer |
| /api/docs/ | Subdominio | The new PanelApp API is available here |
| https://healthsector.webex.com... | Externo Subdominio | for a demo download our recorded webinar here |
| https://twitter.com/PanelAppTeam | Externo | |
| https://www.ukas.com/wp-conten... | Externo Subdominio | Please refer to the Schedule for further details |
| https://www.england.nhs.uk/pub... | Externo Subdominio | National Genomic Test Directory |
| /panels/402/ | Subdominio | R59 Early onset or syndromic epilepsy |
| https://www.ncbi.nlm.nih.gov/p... | Externo Subdominio | ClinGen Dosage Sensitivity Map |
| /media/files/PanelApp_Handbook... | Texto duplicado | PanelApp Handbook V35 |
| /?_escaped_fragment_=Guidelines | Subdominio | Guidelines tab |
| /accounts/login/ | Subdominio | register |
| /media/files/PanelApp_Handbook... | Texto duplicado | PanelApp Handbook V35 |
| https://www.genomicsengland.co... | Externo Subdominio | Texto ancla no relevante here |
| /cdn-cgi/l/email-protection | [email protected] | |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| /?_escaped_fragment_=Webservices | Subdominio | WebServices |
| /?_escaped_fragment_=Webservices | Subdominio Texto duplicado | WebServices |
| https://twitter.com/PanelAppTeam | Externo | @PanelAppTeam |
| https://www.england.nhs.uk/pub... | Externo Subdominio | NHS National Genomic Test Directory v7 |
| /panels/1471/ | R453 | |
| /panels/473/ | R147 | |
| /panels/1505/ | R449 | |
| /panels/1504/ | R450 | |
| /panels/1506/ | R451 | |
| /panels/106/ | R195 | |
| /panels/600/ | R358 | |
| /panels/467/ | R98 | |
| /panels/1339/ | R275 | |
| /panels/1355/ | R403 | |
| https://www.england.nhs.uk/pub... | Externo Subdominio | NHS National Genomic Test Directory v6 |
| /panels/478/ | R21, R412 | |
| /panels/484/ | DDG2P | |
| https://www.ebi.ac.uk/gene2phe... | Externo Subdominio | Gene2Phenotype (G2P) |
| /panels/486/ | R27 | |
| https://thegencc.org/ | Externo | Gene Curation Coalition (GenCC) |
| /panels/285/ | R29 | |
| /panels/9/ | R146 | |
| /panels/486/ | Texto duplicado | R27 |
| /panels/1220/ | R441 | |
| https://www.england.nhs.uk/gen... | Externo Subdominio Texto duplicado | NHS National Genomic Test Directory |
| /panels/1225/ | Subdominio | R440 |
| /panels/1221/ | Subdominio | R215 |
| /panels/1225/ | Subdominio Texto duplicado | R440 |
| /panels/1221/ | Subdominio Texto duplicado | R215 |
| /panels/1334/ | Subdominio | R221 |
| https://www.england.nhs.uk/gen... | Externo Subdominio Texto duplicado | NHS National Genomic Test Directory |
| https://www.england.nhs.uk/gen... | Externo Subdominio Texto duplicado | NHS National Genomic Test Directory |
| /panels/1221/ | Nueva ventana Subdominio Texto duplicado | R215 |
| /panels/1222/ | Nueva ventana Subdominio | R216 |
| /panels/1223/ | Nueva ventana Subdominio | R430 |
| /panels/1219/ | Nueva ventana Subdominio | R434 |
| /panels/1226/ | Nueva ventana Subdominio | R436 |
| /panels/1217/ | Nueva ventana Subdominio | R438 |
| /panels/1224/ | Nueva ventana Subdominio | R439 |
| /panels/1225/ | Nueva ventana Subdominio Texto duplicado | R440 |
| /panels/1220/ | Nueva ventana Subdominio Texto duplicado | R441 |
| https://clinicalgenome.org/cur... | Externo | ClinGen |
| /media/files/PanelApp_Handbook... | PanelApp Handbook | |
| https://www.genomicsengland.co... | Externo Subdominio | previous investigations at Genomics England |
| https://panelapp.agha.umccr.org/ | Externo Subdominio Texto duplicado | PanelApp Australia |
| https://www.sciencedirect.com/... | Externo Subdominio Texto duplicado | Scaling national and international improvement in virtual gene panel curation using a collaborative approach to discordance resolution, AJHG, 2021 |
| https://nhsgms-panelapp.genomi... | Externo Subdominio Texto duplicado | NHS Genomic Medicine Service (GMS) Panels Resource |
| https://www.england.nhs.uk/pub... | Externo Subdominio Texto duplicado | NHS National Genomic Test Directory |
| https://www.england.nhs.uk/gen... | Externo Subdominio Texto duplicado | updating the NHS National Genomic Test Directory webpage. |
| https://nhsgms-panelapp.genomi... | Externo Subdominio Texto duplicado | Click here to go to the NHS GMS Panels Resource |
| https://nhsgms-panelapp.genomi... | Externo Subdominio Texto duplicado | NHS GMS Panels Resource |
| /panels/227/ | Subdominio | Genomic Imprinting |
| http://igc.otago.ac.nz/home.html | Externo Subdominio | Catalogue of Parent of Origin Effects |
| https://www.geneimprint.com/si... | Externo Subdominio | Geneimprint |
| https://pubmed.ncbi.nlm.nih.go... | Externo Subdominio | PMID:30794780 |
| / | Subdominio | PanelApp’s crowdsourcing |
| /accounts/registration/ | Subdominio Texto duplicado | register |
| https://www.nature.com/article... | Externo Subdominio | PanelApp paper |
| https://www.genomicsengland.co... | Externo Subdominio Texto duplicado | PanelApp Australia |
| /panels/111/ | Subdominio | COVID-19 Research gene panel |
| https://panelapp.agha.umccr.org/ | Externo Subdominio Texto duplicado | PanelApp Australia |
| /accounts/registration/ | Subdominio Texto duplicado | register |
| /cdn-cgi/l/email-protection | contact us | |
| https://www.genomicsengland.co... | Externo Subdominio | partnering with the GenOMICC consortium, Illumina and the NHS |
| /panels/111/ | Subdominio | research panel |
| /panels/111/ | Subdominio | panel |
| /accounts/registration/ | Subdominio Texto duplicado | register |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| /panels/728/ | Subdominio | Texto ancla URL https://panelapp.genomicsengland.co.uk/panels/728/ |
| /panels/111/ | Subdominio Texto duplicado | panel |
| https://www.rarediseaseday.org/ | Externo Subdominio | Rare Disease day |
| /panels/ | Subdominio Texto duplicado | PanelApp |
| /panels/entities/ADAR | Subdominio | E.g. ADAR |
| /panels/399/gene/APOB/?_escape... | Subdominio | E.g. APOB |
| /?_escaped_fragment_=API | Subdominio | API |
| https://panelapp.agha.umccr.org/ | Externo Subdominio Texto duplicado | PanelApp Australia |
| /panels/ | Subdominio | Genomics England PanelApp |
| https://www.vcgs.org.au/ | Externo Subdominio | Victorian Clinical Genetics Services |
| https://panelapp.agha.umccr.or... | Externo Subdominio | PanelApp Australia website |
| https://gitlab.com/genomicseng... | Externo | open source |
| https://www.genomicsengland.co... | Externo Subdominio | Read more on the Genomics England website here. |
| https://www.spectrumnews.org/n... | Externo Subdominio | Spectrum article regarding useful resources for genes and variants for autism research |
| /panels/657/ | Subdominio | research gene panel for autism |
| /accounts/login/ | Subdominio Texto duplicado | Texto ancla no relevante here |
| /panels/657/ | Subdominio Texto duplicado | research gene panel for autism |
| /media/files/PanelApp_Reviewer... | Texto duplicado | PanelApp Reviewer's Guide |
| https://www.nature.com/article... | Externo Subdominio Texto duplicado | PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels |
| /?_escaped_fragment_=Reviewers | Subdominio | tool |
| https://www.vcgs.org.au/dr-zor... | Externo Subdominio | Zornitza Stark |
| https://www.vcgs.org.au/ | Externo Subdominio Texto duplicado | Victorian Clinical Genetics Services |
| https://www.australiangenomics... | Externo Subdominio | Australian Genomics |
| https://www.genomicsengland.co... | Externo Subdominio Texto duplicado | Genomics England |
| https://www.vcgs.org.au/ | Externo Subdominio Texto duplicado | Victorian Clinical Genetics Services |
| https://www.australiangenomics... | Externo Subdominio Texto duplicado | Australian Genomics |
| /panels/402/ | Subdominio | Genetic epilepsy syndromes |
| /panels/285/ | Subdominio | Intellectual disability |
| /panels/112/ | Subdominio | Mitochondrial disorders |
| /media/files/PanelApp_User_Gui... | Texto duplicado | PanelApp Handbook |
| https://www.ispdhome.org/ISPD2019 | Externo Subdominio | 23rd International Conference on Prenatal Diagnosis and Therapy |
| /panels/478/ | Subdominio | Fetal anomalies |
| /media/files/deBurca_ISPD2019.pdf | Texto duplicado | Texto ancla no relevante here |
| https://www.acgs.uk.com/ | Externo Subdominio | ACGS |
| /panels/ | Subdominio | panels page |
| /panels/55/ | Subdominio | Breast cancer pertinent cancer susceptibility |
| /panels/385/ | Subdominio | Neonatal cholestasis |
| /panels/540/ | Subdominio | Adult onset movement disorder |
| /panels/85/ | Subdominio | Hereditary neuropathy |
| /panels/486/ | Subdominio | Paediatric disorders |
| /panels/258/ | Subdominio | Arthrogryposis |
| /panels/412/ | Subdominio | Gene therapy clinical trials |
| /panels/657/ | Subdominio | Autism |
| https://clinicalgenome.org/ | Externo Texto duplicado | ClinGen |
| https://www.acgs.uk.com/ | Externo Subdominio Texto duplicado | ACGS |
| /panels/ | Subdominio | panels filter box here |
| https://clinicalgenome.org/ | Externo Texto duplicado | ClinGen |
| https://decipher.sanger.ac.uk/ | Externo Subdominio | DECIPHER |
| https://clinicalgenome.org/abo... | Externo | schedule |
| / | Subdominio Texto duplicado | PanelApp |
| https://www.ga4gh.org/ | Externo Subdominio | GA4GH |
| https://cancercenter.gwu.edu/ | Externo Subdominio | Cancer Centre |
| https://smhs.gwu.edu/biochemis... | Externo Subdominio | Department of Biochemistry and Molecular Medicine |
| https://www.gwumc.edu/smhs/fac... | Externo Subdominio | Dr Raja Mazumder |
| / | Subdominio Texto duplicado | PanelApp |
| https://www.biocuration2019.org/ | Externo Subdominio | 12th International Biocuration Conference |
| https://twitter.com/search?q=#... | Externo | #biocuration2019 |
| https://clinicalgenome.org/ | Externo | ClinGen Resource |
| https://blog.ashg.org/2019/05/... | Externo Subdominio Texto duplicado | Texto ancla no relevante here |
| / | Subdominio | PanelApp’s |
| https://clinicalgenome.org/ | Externo Texto duplicado | ClinGen |
| https://www.orpha.net/consor/c... | Externo Subdominio | Orphanet |
| https://www.biocuration2019.org/ | Externo Subdominio | Biocuration 2019 conference |
| https://github.com/genomicseng... | Externo | available in GitHub |
| / | Subdominio Texto duplicado | PanelApp |
| https://github.com/genomicseng... | Externo | GitHub |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| https://twitter.com/PanelAppTeam | Externo Texto duplicado | |
| /media/files/PanelApp_Reviewer... | guide | |
| https://www.genomicsengland.co... | Externo Subdominio | all the rare diseases |
| https://www.omim.org/ | Externo Subdominio | OMIM |
| /panels/402/ | Subdominio | Genetic epilepsy syndromes panel |
| /panels/384/ | Subdominio | Limb disorders gene panel |
| /panels/386/ | Subdominio | Pancreatitis gene panel |
| /panels/209/ | Subdominio | Polycystic liver disease |
| /panels/224/ | Subdominio | Short QT syndromes |
| /panels/253/ | Subdominio | Non-syndromic familial congenital anorectal malformations |
| /media/files/PanelAppHandbook_... | Texto duplicado | PanelApp Handbook |
| /api/docs/ | Subdominio | The new API |
| https://www.ncbi.nlm.nih.gov/p... | Externo Subdominio Texto duplicado | ClinGen Dosage Sensitivity Map |
| https://www.ncbi.nlm.nih.gov/p... | Externo Subdominio Texto duplicado | ClinGen Dosage Sensitivity Map |
| /panels/entities/ | Subdominio | Genes and Entities page |
| /panels/162/ | Subdominio | Primary Microcephaly - Microcephalic Dwarfism Spectrum gene panel |
| /panels/entities/ISCA-37390-Loss | Subdominio | - see this example |
| /panels/34/ | Subdominio | Anophthalmia or microphthalmia |
| /panels/245/ | Subdominio | Adult solid tumours pertinent cancer susceptibility |
| /panels/416/ | Subdominio | Cholestasis Victorian Clinical Genetics Services |
| /panels/activity/?panel=285 | Subdominio | An example is given here for the intellectual disability panel |
| /panels/activity/ | Subdominio | Activity page |
| /panels/385/ | Subdominio Texto duplicado | Neonatal cholestasis |
| /media/files/STR_quickguide_8t... | Subdominio | This guide provides an overview to STRs and the changes to PanelApp |
| /panels/398/ | Subdominio | Primary immunodeficiency disorders |
| https://coursesandconferences.... | Externo Subdominio | Genomics of Rare Disease conference |
| /panels/394/ | Subdominio | Familial Meniere Disease panel |
| /panels/277/ | Subdominio | Idiopathic ventricular fibrillation gene panel |
| /panels/76/ | Subdominio | Long QT syndrome |
| /panels/13/ | Subdominio | Brugada syndrome |
| /panels/214/ | Subdominio | Catecholaminergic Polymorphic Ventricular Tachycardia |
| /panels/134/ | Subdominio | Arrhythmogenic Right Ventricular Cardiomyopathy |
| /panels/285/ | Subdominio | Intellectual disability gene panel |
| /panels/391/ | Subdominio | The Adult solid tumours gene panel |
| https://twitter.com/PanelAppTeam | Externo Texto duplicado | @PanelAppTeam |
| /panels/269/ | Subdominio | Amelogenesis Imperfecta |
| /panels/activity/ | Texto duplicado | Activity page |
| https://www.biocuration.org/an... | Externo Subdominio Texto ancla | Read more about her career and her valuable work that has led to this award |
| http://pahgc.org/scientific-pr... | Externo | Pan Arab Human Genetics Conference 2018 |
| /panels/285 | Subdominio | ID gene panel |
| https://www.ehlers-danlos.com/... | Externo Subdominio | Read this blog post |
| /panels/53/ | Subdominio | EDS gene panel |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| /panels/83/ | Subdominio | The PMG panel was promoted to Version 1 |
| /panels/285/ | Subdominio | ID panel |
| /panels/384/ | Subdominio | Limb disorders |
| /panels/386/ | Subdominio | Pancreatitis |
| /panels/385/ | Subdominio | Cholestasis |
| /panels/genes/ | Subdominio | genes |
| /panels/ | Subdominio Texto duplicado | panel |
| /crowdsourcing/PanelApp/EditPa... | Mendelian disorders of pain perception | |
| /crowdsourcing/PanelApp/EditPa... | Ehlers-Danlos syndromes | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Intellectual disability |
| https://www.eventbrite.co.uk/e... | Externo Subdominio | Hirschsprung's Disease Conference |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Texto ancla no relevante here |
| /crowdsourcing/PanelApp/EditPa... | Adult solid tumours | |
| /crowdsourcing/PanelApp/EditPa... | Bladder cancer | |
| /crowdsourcing/PanelApp/EditPa... | Brain cancer | |
| /crowdsourcing/PanelApp/EditPa... | Breast cancer | |
| /crowdsourcing/PanelApp/EditPa... | Childhood solid tumours | |
| /crowdsourcing/PanelApp/EditPa... | Colorectal cancer | |
| /crowdsourcing/PanelApp/EditPa... | DNA Repair Genes | |
| /crowdsourcing/PanelApp/EditPa... | Endometrial cancer | |
| /crowdsourcing/PanelApp/EditPa... | Haematological malignancies | |
| /crowdsourcing/PanelApp/EditPa... | Head and neck cancer | |
| /crowdsourcing/PanelApp/EditPa... | Lung cancer | |
| /crowdsourcing/PanelApp/EditPa... | Melanoma | |
| /crowdsourcing/PanelApp/EditPa... | Neuroendocrine cancer | |
| /crowdsourcing/PanelApp/EditPa... | Ovarian cancer | |
| /crowdsourcing/PanelApp/EditPa... | Prostate cancer | |
| /crowdsourcing/PanelApp/EditPa... | Renal cancer | |
| /crowdsourcing/PanelApp/EditPa... | Sarcoma | |
| /crowdsourcing/PanelApp/EditPa... | Testicular cancer | |
| /crowdsourcing/PanelApp/EditPa... | Upper gastrointestinal cancer | |
| /crowdsourcing/PanelApp/EditPa... | Familial cicatricial/scarring alopecia | |
| /crowdsourcing/PanelApp/EditPa... | Familial hidradenitis suppurativa | |
| https://www.genomicsengland.co... | Externo Subdominio | Link to PDF of Rare Disease Eligibility Criteria V1.7.2 |
| https://www.genomicsengland.co... | Externo Subdominio | Link to all Rare disease documents |
| https://www.clinicalgenome.org... | Externo Subdominio | Curating the Clinical Genome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial cicatricial/scarring alopecia |
| /crowdsourcing/PanelApp/EditPa... | Familial disseminated superficial actinic porokeratosis/DSAP | |
| /crowdsourcing/PanelApp/EditPa... | Undiagnosed neurocutaneous disorders | |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| /crowdsourcing/PanelApp/EditPa... | Clefting | |
| /crowdsourcing/PanelApp/EditPa... | Early onset familial premature ovarian insufficiency | |
| /crowdsourcing/PanelApp/EditPa... | Holoprosencephaly | |
| /crowdsourcing/PanelApp/EditPa... | Hydrocephalus | |
| /crowdsourcing/PanelApp/EditPa... | Neonatal diabetes diagnosed <6 months | |
| /crowdsourcing/PanelApp/EditPa... | Thoracic dystrophies | |
| /crowdsourcing/PanelApp/EditPa... | Inherited non-medullary thyroid cancer | |
| /crowdsourcing/PanelApp/EditPa... | Radial dysplasia | |
| http://enseqlopedia.com/2017/0... | Externo | blog |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Amelogenesis Imperfecta |
| /crowdsourcing/PanelApp/EditPa... | Disseminated non-tuberculous mycobacterial infection | |
| /crowdsourcing/PanelApp/EditPa... | Ductal plate malformation (DPM) | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Early onset familial premature ovarian insufficiency |
| /crowdsourcing/PanelApp/EditPa... | Epilepsy Plus | |
| /crowdsourcing/PanelApp/EditPa... | Familial cicatricial alopecia | |
| /crowdsourcing/PanelApp/EditPa... | Familial disseminated superficial actinic porokeratosis | |
| /crowdsourcing/PanelApp/EditPa... | Familial haemophagocytic lymphohistiocytic disorders | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial hidradenitis suppurativa |
| /crowdsourcing/PanelApp/EditPa... | Familial rhabdomyosarcoma | |
| /crowdsourcing/PanelApp/EditPa... | Fetal structural CNS abnormalities | |
| /crowdsourcing/PanelApp/EditPa... | Gastrointestinal epithelial barrier disorders | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Holoprosencephaly |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Hydrocephalus |
| /crowdsourcing/PanelApp/EditPa... | Idiopathic ventricular fibrillation | |
| /crowdsourcing/PanelApp/EditPa... | Inherited complement deficiency | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Inherited non-medullary thyroid cancer |
| /crowdsourcing/PanelApp/EditPa... | Isomerism and laterality disorders | |
| /crowdsourcing/PanelApp/EditPa... | Monogenic viral susceptibility | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Non-syndromic familial congenital anorectal malformations |
| /crowdsourcing/PanelApp/EditPa... | Primary Membranoproliferative Glomerulonephritis | |
| /crowdsourcing/PanelApp/EditPa... | Pulmonary arterial hypertension | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Radial dysplasia |
| /crowdsourcing/PanelApp/EditPa... | Rhombencephalosynapsis | |
| /crowdsourcing/PanelApp/EditPa... | Short QT syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Single autosomal recessive mutation in rare disease | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Thoracic dystrophies |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Undiagnosed neurocutaneous disorders |
| /crowdsourcing/PanelApp/EditPa... | Unprovoked Thrombosis before 40 years of age | |
| /crowdsourcing/PanelApp/EditPa... | Vici Syndrome and other autophagy disorders | |
| /crowdsourcing/PanelApp/EditPa... | GI track tumour syndromes | |
| /crowdsourcing/PanelApp/EditPa... | Hereditary Erythrocytosis | |
| /crowdsourcing/PanelApp/EditPa... | monogenic nephrogenic diabetes insipidus | |
| /crowdsourcing/PanelApp/EditPa... | Severe hypertriglyceridaemia | |
| /crowdsourcing/PanelApp/EditPa... | Developmental Glaucoma | |
| /crowdsourcing/PanelApp/EditPa... | Familial pulmonary fibrosis | |
| /crowdsourcing/PanelApp/EditPa... | Epidermolysis bullosa | |
| /?_escaped_fragment_=HowTo | the PanelApp How To tab | |
| /crowdsourcing/PanelApp/EditPa... | Skeletal Muscle Channelopathies | |
| /crowdsourcing/PanelApp/EditPa... | Periodic fever syndromes | |
| /crowdsourcing/PanelApp/EditPa... | Distal myopathies | |
| /crowdsourcing/PanelApp/EditPa... | Congenital hypothyroidism or thyroid agenesis | |
| /crowdsourcing/PanelApp/EditPa... | Cerebellar hypoplasia | |
| /crowdsourcing/PanelApp/EditPa... | Congenital myaesthenia | |
| /crowdsourcing/PanelApp/EditPa... | Congenital myopathy | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Congenital hypothyroidism or thyroid agenesis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Congenital myaesthenia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Congenital myopathy |
| /crowdsourcing/PanelApp/EditPa... | Corneal abnormalities | |
| /crowdsourcing/PanelApp/EditPa... | Cytopaenias and congenital anaemias | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Distal myopathies |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Early onset familial premature ovarian insufficiency |
| /crowdsourcing/PanelApp/EditPa... | Ehlers Danlos Syndromes | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Epilepsy Plus |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial cicatricial alopecia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial disseminated superficial actinic porokeratosis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial haemophagocytic lymphohistiocytic disorders |
| /crowdsourcing/PanelApp/EditPa... | Familial hydradenitis suppurative | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial pulmonary fibrosis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial rhabdomyosarcoma |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Fetal structural CNS abnormalities |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Gastrointestinal epithelial barrier disorders |
| /crowdsourcing/PanelApp/EditPa... | Glaucoma (developmental) | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Holoprosencephaly |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Hydrocephalus |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Inherited complement deficiency |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Inherited non-medullary thyroid cancer |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Isomerism and laterality disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | monogenic nephrogenic diabetes insipidus |
| /crowdsourcing/PanelApp/EditPa... | Neonatal or paediatric intensive care admission with a likely monogenic cause | |
| /crowdsourcing/PanelApp/EditPa... | Neurotransmitter disorders | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Non-syndromic familial congenital anorectal malformations |
| /crowdsourcing/PanelApp/EditPa... | Peutz-Jeghers syndrome | |
| /crowdsourcing/PanelApp/EditPa... | PHACE(S) syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Primary Microcephaly - Microcephalic Dwarfism Spectrum | |
| /crowdsourcing/PanelApp/EditPa... | Resistance to thyroid hormone | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Rhombencephalosynapsis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Severe hypertriglyceridaemia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Single autosomal recessive mutation in rare disease |
| /crowdsourcing/PanelApp/EditPa... | Structural basal ganglia disorders | |
| /crowdsourcing/PanelApp/EditPa... | Syndromic congenital heart disease under 1 year old | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Thoracic dystrophies |
| /crowdsourcing/PanelApp/EditPa... | Undiagnosed metabolic disorders | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Undiagnosed neurocutaneous disorders |
| /crowdsourcing/PanelApp/EditPa... | Unexplained monogenic fetal disorders | |
| /crowdsourcing/PanelApp/EditPa... | Young adult onset cancer | |
| /crowdsourcing/PanelApp/EditPa... | Tier 1 gene list from Inherited bleeding disorders project | |
| /crowdsourcing/PanelApp/EditPa... | Tier 1 gene list from Specialist Pathology: Evaluating Exomes in Diagnostics project | |
| /crowdsourcing/PanelApp/EditPa... | Ehlers-Danlos syndromes panel | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Disseminated non-tuberculous mycobacterial infection |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Idiopathic ventricular fibrillation |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial hidradenitis suppurativa |
| /crowdsourcing/PanelApp/EditPa... | Arthrogryposis gene panel | |
| /crowdsourcing/PanelApp/EditPa... | Anaemias and red cell disorders | |
| /crowdsourcing/PanelApp/EditPa... | Classical Ehlers Danlos Syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Congenital hypothyroidism or thyroid agenesis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Congenital myaesthenia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Congenital myopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Corneal abnormalities |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Distal myopathies |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Early onset familial premature ovarian insufficiency |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Epilepsy Plus |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial cicatricial alopecia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial disseminated superficial actinic porokeratosis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial haemophagocytic lymphohistiocytic disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial hydradenitis suppurative |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial pulmonary fibrosis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial rhabdomyosarcoma |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Fetal structural CNS abnormalities |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Gastrointestinal epithelial barrier disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Glaucoma (developmental) |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Holoprosencephaly |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Hydrocephalus |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Inherited complement deficiency |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Inherited non-medullary thyroid cancer |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Isomerism and laterality disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | monogenic nephrogenic diabetes insipidus |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Neonatal or paediatric intensive care admission with a likely monogenic cause |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Neurotransmitter disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Non-syndromic familial congenital anorectal malformations |
| /crowdsourcing/PanelApp/EditPa... | Non-syndromic hypotrichosis | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Periodic fever syndromes |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Peutz-Jeghers syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | PHACE(S) syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Primary Microcephaly - Microcephalic Dwarfism Spectrum |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Radial dysplasia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Resistance to thyroid hormone |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Rhombencephalosynapsis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Severe hypertriglyceridaemia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Single autosomal recessive mutation in rare disease |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Structural basal ganglia disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Syndromic congenital heart disease under 1 year old |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Thoracic dystrophies |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Undiagnosed metabolic disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Undiagnosed neurocutaneous disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Unexplained monogenic fetal disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Young adult onset cancer |
| /crowdsourcing/PanelApp/EditPa... | Intracerebral calcification disorders | |
| /crowdsourcing/PanelApp/EditPa... | Congenital disorders of glycosylation | |
| /crowdsourcing/PanelApp/EditPa... | Sudden death in young people | |
| /crowdsourcing/PanelApp/EditPa... | Cerebrovascular disorders | |
| /crowdsourcing/PanelApp/EditPa... | Amyotrophic lateral sclerosis/motor neuron disease | |
| /crowdsourcing/PanelApp/EditPa... | Inherited bleeding disorders | |
| /crowdsourcing/PanelApp/EditPa... | Severe multi-system atopic disease with high IgE | |
| /crowdsourcing/PanelApp/EditPa... | Pityriasis rubra pilaris | |
| /crowdsourcing/PanelApp/EditPa... | Parkinson Disease and Complex Parkinsonism | |
| /crowdsourcing/PanelApp/EditPa... | Malformations of cortical development | |
| /crowdsourcing/PanelApp/EditPa... | Neonatal and familial gastrointestinal neuromuscular disorders | |
| /crowdsourcing/PanelApp/EditPa... | Familial Neural Tube Defects | |
| /crowdsourcing/PanelApp/EditPa... | Significant early-onset obesity +/- other endocrine features and short stature | |
| /crowdsourcing/PanelApp/EditPa... | Early onset dystonia | |
| /crowdsourcing/PanelApp/EditPa... | Infantile enterocolitis & monogenic inflammatory bowel disease | |
| /panels/ | panel page | |
| /crowdsourcing/PanelApp/EditPa... | Hereditary Ataxia panel Version 1.7 | |
| /crowdsourcing/PanelApp/EditPa... | Diabetes with additional phenotypes suggestive of a monogenic aetiology Version 1.1 | |
| /panels/ | 56% have been reviewed and revised to Version 1 | |
| /panels/ | full gene panel list | |
| /panels/ | gene panel list | |
| /crowdsourcing/PanelApp/EditPa... | Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria | |
| /crowdsourcing/PanelApp/EditPa... | Autosomal dominant deafness | |
| /crowdsourcing/PanelApp/EditPa... | Brain channelopathy | |
| /crowdsourcing/PanelApp/EditPa... | Cataracts | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Cerebellar hypoplasia |
| /crowdsourcing/PanelApp/EditPa... | Complex Parkinsonism, includes pallido-pyramidal syndromes | |
| /crowdsourcing/PanelApp/EditPa... | Congenital anaemias | |
| /crowdsourcing/PanelApp/EditPa... | Congenital muscular dystrophy | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Congenital myaesthenia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Congenital myopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Corneal abnormalities |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Distal myopathies |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Early onset dystonia |
| /crowdsourcing/PanelApp/EditPa... | Early onset familial premature ovarian failure | |
| /crowdsourcing/PanelApp/EditPa... | Familial and multiple pulmonary arteriovenous malformations | |
| /crowdsourcing/PanelApp/EditPa... | Familial cerebral small vessel disease | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial cicatricial alopecia |
| /crowdsourcing/PanelApp/EditPa... | Familial Genetic Generalised Epilepsies | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial pulmonary fibrosis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial rhabdomyosarcoma |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Fetal structural CNS abnormalities |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Gastrointestinal epithelial barrier disorders |
| /crowdsourcing/PanelApp/EditPa... | Genetic Epilepsies with Febrile Seizures Plus | |
| /crowdsourcing/PanelApp/EditPa... | Glaucoma, developmental | |
| /crowdsourcing/PanelApp/EditPa... | Hereditary haemorrhagic telangiectasia | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Holoprosencephaly |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Infantile enterocolitis & monogenic inflammatory bowel disease |
| /crowdsourcing/PanelApp/EditPa... | Infantile nystagmus | |
| /crowdsourcing/PanelApp/EditPa... | Inherited white matter disorders | |
| /crowdsourcing/PanelApp/EditPa... | Juvenile dermatomyositis | |
| /crowdsourcing/PanelApp/EditPa... | Kleine-Levin syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Kyphoscoliotic Ehlers-Danlos syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Limb girdle muscular dystrophy | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Malformations of cortical development |
| /crowdsourcing/PanelApp/EditPa... | Moyamoya disease | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Neurotransmitter disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Non-syndromic hypotrichosis |
| /crowdsourcing/PanelApp/EditPa... | Paediatric motor neuronopathies | |
| /crowdsourcing/PanelApp/EditPa... | Peeling skin syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Periodic fever syndromes |
| /crowdsourcing/PanelApp/EditPa... | Peroxisomal biogenesis disorders | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Peutz-Jeghers syndrome |
| /crowdsourcing/PanelApp/EditPa... | Posterior segment abnormalities | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Primary Microcephaly - Microcephalic Dwarfism Spectrum |
| /crowdsourcing/PanelApp/EditPa... | Rare multisystem ciliopathy disorders | |
| /crowdsourcing/PanelApp/EditPa... | Rhabdomyolysis and metabolic muscle disorders | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Rhombencephalosynapsis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Severe multi-system atopic disease with high IgE |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Skeletal Muscle Channelopathies |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Structural basal ganglia disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Undiagnosed neurocutaneous disorders |
| /crowdsourcing/PanelApp/EditPa... | Unexplained kidney failure in young people | |
| /crowdsourcing/PanelApp/EditPa... | Unexplained skeletal dysplasia | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Amyotrophic lateral sclerosis/motor neuron disease |
| /crowdsourcing/PanelApp/EditPa... | Early onset pancytopenia and red cell disorders | |
| /crowdsourcing/PanelApp/EditPa... | Non-Fanconi anaemia | |
| /crowdsourcing/PanelApp/EditPa... | Extreme early-onset hypertension | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Inherited complement deficiency |
| /crowdsourcing/PanelApp/EditPa... | Familial Tumours Syndromes of the central & peripheral Nervous system | |
| /crowdsourcing/PanelApp/EditPa... | Choanal atresia | |
| /crowdsourcing/PanelApp/EditPa... | Genodermatoses with malignancies | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Arthrogryposis |
| /crowdsourcing/PanelApp/EditPa... | Renal tubular acidosis | |
| /crowdsourcing/PanelApp/EditPa... | Early onset and familial Parkinson's Disease | |
| /crowdsourcing/PanelApp/EditPa... | Coarse facial features including Coffin-Siris-like disorders | |
| /crowdsourcing/PanelApp/EditPa... | Palmoplantar keratoderma and erythrokeratodermas | |
| /crowdsourcing/PanelApp/EditPa... | Other peroxisomal disorders | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Thoracic dystrophies |
| /crowdsourcing/PanelApp/EditPa... | Ocular coloboma | |
| /crowdsourcing/PanelApp/EditPa... | Significant early-onset obesity plus/minus other endocrine features and short stature | |
| /crowdsourcing/PanelApp/EditPa... | Familial or syndromic hypoparathyroidism | |
| /crowdsourcing/PanelApp/EditPa... | Hypertrophic Cardiomyopathy | |
| /crowdsourcing/PanelApp/EditPa... | Bardet-Biedl Syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Hypertrophic Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Dilated Cardiomyopathy and conduction defects | |
| /crowdsourcing/PanelApp/EditPa... | Bilateral microtia | |
| /crowdsourcing/PanelApp/EditPa... | Multiple endocrine tumours | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Brugada syndrome |
| /crowdsourcing/PanelApp/EditPa... | Stickler syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Agranulocytosis | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Arrhythmogenic Right Ventricular Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Epileptic encephalopathy | |
| /crowdsourcing/PanelApp/EditPa... | Familial breast cancer | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Intellectual disability |
| /crowdsourcing/PanelApp/EditPa... | All recognised syndromes and those with suggestive features, includes Mitochondrial disorders and Lactic acidosis | |
| /crowdsourcing/PanelApp/EditPa... | Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders, includes Atypical Beckwith-Wiedemann syndrome, Classical Beckwith-Wiedemann synd... | |
| /crowdsourcing/PanelApp/EditPa... | RASopathies, includes Noonan syndrome plus other features, Noonan syndrome, LEOPARD syndrome, Legius syndrome, Costello syndrome, Cardio-facio-cutaneous synd... | |
| /crowdsourcing/PanelApp/EditPa... | CAKUT | |
| /crowdsourcing/PanelApp/EditPa... | Chondrodysplasia punctata | |
| /crowdsourcing/PanelApp/EditPa... | Congenital hearing impairment, profound/severe | |
| /crowdsourcing/PanelApp/EditPa... | Craniosynostosis syndromes phenotypes | |
| /crowdsourcing/PanelApp/EditPa... | Erythropoietic protoporphyria, mild variant | |
| /crowdsourcing/PanelApp/EditPa... | Familial Focal Epilepsies | |
| /crowdsourcing/PanelApp/EditPa... | Familial haematuria | |
| /crowdsourcing/PanelApp/EditPa... | Familial Thoracic Aortic Aneurysm Disease | |
| /crowdsourcing/PanelApp/EditPa... | Hydroa vacciniforme | |
| /crowdsourcing/PanelApp/EditPa... | Hyperinsulinism | |
| /crowdsourcing/PanelApp/EditPa... | Left Ventricular Noncompaction Cardiomyopathy | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Long QT syndrome |
| /crowdsourcing/PanelApp/EditPa... | Mucopolysaccharideosis, Gaucher, Fabry | |
| /crowdsourcing/PanelApp/EditPa... | Multiple bowel polyps | |
| /crowdsourcing/PanelApp/EditPa... | Multiple Epiphyseal Dysplasia | |
| /crowdsourcing/PanelApp/EditPa... | Multiple Tumours | |
| /crowdsourcing/PanelApp/EditPa... | Neuro-endocrine Tumours- PCC and PGL | |
| /crowdsourcing/PanelApp/EditPa... | Paediatric congenital malformation-dysmorphism-tumour syndromes | |
| /crowdsourcing/PanelApp/EditPa... | Parathyroid Cancer | |
| https://biosharing.org/biodbco... | Externo | BioSharing |
| http://www.isb-sib.ch/events/b... | Externo Subdominio | 9th International Biocuration Conference |
| /crowdsourcing/PanelApp/EditPa... | intellectual disability panel | |
| /crowdsourcing/PanelApp/EditPa... | Beckwith-Wiedemann syndrome (BWS) | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Beckwith-Wiedemann syndrome (BWS) |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Arrhythmogenic Right Ventricular Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Brugada syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Chondrodysplasia punctata |
| /crowdsourcing/PanelApp/EditPa... | Congenital hearing impairment (profound/severe) | |
| /crowdsourcing/PanelApp/EditPa... | Dilated Cardiomyopathy (DCM) | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Dilated Cardiomyopathy and conduction defects |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial Thoracic Aortic Aneurysm Disease |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Hypertrophic Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Intellectual disability |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Left Ventricular Noncompaction Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Long QT syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Mucopolysaccharideosis, Gaucher, Fabry |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Multiple Tumours |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Multiple bowel polyps |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Parathyroid Cancer |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Posterior segment abnormalities |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| http://www.bbc.co.uk/news/heal... | Externo Subdominio | in the press |
| http://link.springer.com/artic... | Externo Subdominio | comprehensive sequencing assay for inherited cardiac conditions (ICC) |
| /crowdsourcing/PanelApp/EditPa... | Aortopathies | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Arrhythmogenic Right Ventricular Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Brugada syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Catecholaminergic Polymorphic Ventricular Tachycardia |
| /crowdsourcing/PanelApp/EditPa... | Dilated Cardiomyopathy | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Dilated Cardiomyopathy and conduction defects |
| /crowdsourcing/PanelApp/EditPa... | Familial hypercholesterolaemia | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Hypertrophic Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Long QT syndrome |
| /crowdsourcing/PanelApp/EditPa... | Noon syndrome - RASopathies panel | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Arrhythmogenic Right Ventricular Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Brugada syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Catecholaminergic Polymorphic Ventricular Tachycardia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Dilated Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Dilated Cardiomyopathy and conduction defects |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial Thoracic Aortic Aneurysm Disease |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial hypercholesterolaemia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Hypertrophic Cardiomyopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Long QT syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Agranulocytosis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Bardet-Biedl Syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Bilateral microtia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Craniosynostosis syndromes phenotypes |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Epileptic encephalopathy |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Erythropoietic protoporphyria, mild variant |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial Focal Epilepsies |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial breast cancer |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial haematuria |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Hydroa vacciniforme |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Multiple Epiphyseal Dysplasia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Multiple endocrine tumours |
| /crowdsourcing/PanelApp/EditPa... | RASopathies | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Stickler syndrome |
| /crowdsourcing/PanelApp/EditPa... | Lactic Acidosis | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Intracerebral calcification disorders |
| /crowdsourcing/PanelApp/EditPa... | Multiple Tumours gene panel | |
| https://vimeo.com/139722607 | Externo | introduction to PanelApp |
| https://vimeo.com/139722536 | Externo | instructions for reviewing gene panels on PanelApp |
| https://www.youtube.com/embed/... | Externo Subdominio | An introduction to PanelApp - YouTube |
| https://www.youtube.com/embed/... | Externo Subdominio | Instructions for Expert Reviewers - YouTube |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Multiple bowel polyps |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial cerebral small vessel disease |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Autosomal dominant deafness |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Non-syndromic hypotrichosis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Early onset familial premature ovarian failure |
| /crowdsourcing/PanelApp/EditPa... | Disorders of sex development | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Fetal structural CNS abnormalities |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Kyphoscoliotic Ehlers-Danlos syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Unexplained skeletal dysplasia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Unexplained kidney failure in young people |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Paediatric congenital malformation-dysmorphism-tumour syndromes |
| /crowdsourcing/PanelApp/EditPa... | Atypical haemolytic uraemic syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial Tumours Syndromes of the central & peripheral Nervous system |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| /crowdsourcing/PanelApp/EditPa... | Joubert syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Rare multisystem ciliopathy disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial cicatricial alopecia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Peeling skin syndrome |
| /crowdsourcing/PanelApp/EditPa... | Cockayne syndrome | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Primary Microcephaly - Microcephalic Dwarfism Spectrum |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Coarse facial features including Coffin-Siris-like disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Cerebellar hypoplasia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Holoprosencephaly |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Rhombencephalosynapsis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Malformations of cortical development |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Moyamoya disease |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Intracerebral calcification disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Inherited white matter disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Peutz-Jeghers syndrome |
| /crowdsourcing/PanelApp/EditPa... | undiagnosed neurocutaneous disorders | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Atypical haemolytic uraemic syndrome |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Hereditary haemorrhagic telangiectasia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial and multiple pulmonary arteriovenous malformations |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Intellectual disability |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Epileptic encephalopathy |
| /crowdsourcing/PanelApp/EditPa... | Generalised pustular psoriasis | |
| /crowdsourcing/PanelApp/EditPa... | Meige’s disease | |
| /crowdsourcing/PanelApp/EditPa... | Autosomal recessive congenital ichthyosis | |
| /crowdsourcing/PanelApp/EditPa... | Ectodermal dysplasia without a known gene mutation | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Epidermolysis bullosa |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial hypercholesterolaemia |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Familial pulmonary fibrosis |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Infantile nystagmus |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Inherited complement deficiency |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Palmoplantar keratoderma and erythrokeratodermas |
| http://www.phgfoundation.org/b... | Externo Subdominio | PanelApp – the catalyst to drive improved gene panel testing? |
| http://blog.openhelix.eu/?p=22956 | Externo Subdominio | PanelApp, from the 100,000 Genomes Project |
| http://www.congresso.sigu.net/ | Externo Subdominio | National Congress, Rimini |
| https://soundcloud.com/rarecas... | Externo | RARECast (Global Genes) podcast |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Early onset pancytopenia and red cell disorders |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Congenital anaemias |
| /crowdsourcing/PanelApp/EditPa... | Congenital neutropaenia | |
| /crowdsourcing/PanelApp/EditPa... | Texto duplicado | Non-Fanconi anaemia |
| /static/upload/images/PanelApp... | View the list of 120 gene panels that still require expert review to find the rare disease in your area of expertise | |
| https://vimeo.com/139722607 | Externo | introductory video to PanelApp |
| https://vimeo.com/139722536 | Externo | Expert Reviewers |
| https://www.youtube.com/watch?... | Externo Subdominio Texto duplicado | introductory video to PanelApp |
| https://www.youtube.com/watch?... | Externo Subdominio Texto duplicado | Expert Reviewers |
| http://www.phgfoundation.org/n... | Externo Subdominio | Read an article by the PHG Foundation regarding PanelApp |
| /panels/ | Texto duplicado | PanelApp |
| /?_escaped_fragment_=Content | Subdominio | Contact, News, Sources and Glossary |
| https://www.omim.org/ | Externo Subdominio Texto duplicado | OMIM |
| https://www.ncbi.nlm.nih.gov/c... | Externo Subdominio | ClinVar |
| /?_escaped_fragment_=Reviewers | Subdominio | Reviewers |
| / | Subdominio | PanelApp home page |
| /accounts/login/ | Subdominio | PanelApp login |
| /?_escaped_fragment_=Content | Subdominio | Glossary |
| https://www.genenames.org/ | Externo Subdominio | HGNC |
| https://www.ensembl.org/index.... | Externo Subdominio | Ensembl |
| https://www.omim.org/ | Externo Subdominio Texto duplicado | OMIM |
| https://www.ebi.ac.uk/gene2phe... | Externo Subdominio | Gene2Phenotype |
| https://www.omim.org/ | Externo Subdominio Texto duplicado | OMIM |
| https://www.ensembl.org/index.... | Externo Subdominio Texto duplicado | Ensembl |
| https://www.ebi.ac.uk/gene2phe... | Externo Subdominio Texto duplicado | Gene2Phenotype |
| /panels/20/str/PPP2R2B_CAG/ | Subdominio | PPP2R2B_CAG |
| /panels/20/region/ISCA-37404-L... | Subdominio | ISCA-37404-Loss |
| / | Subdominio | home page |
| https://www.genenames.org/ | Externo Subdominio Texto duplicado | HGNC |
| https://www.omim.org/ | Externo Subdominio Texto duplicado | OMIM |
| https://www.ebi.ac.uk/gene2phe... | Externo Subdominio Texto duplicado | Gene2Phenotype |
| / | Subdominio Texto duplicado | home page |
| /panels/20/region/ISCA-37404-L... | Subdominio Texto duplicado | ISCA-37404-Loss |
| /media/files/PanelApp_Handbook... | Texto duplicado | PanelApp Handbook V35 |
| /accounts/registration/ | Subdominio | To become a reviewer, register here |
| /media/files/PanelApp_Reviewer... | Texto duplicado | guide |
| http://www.genomicsengland.co.... | Externo Subdominio | Genomics England website |
| https://www.genomicsengland.co... | Externo Subdominio Texto duplicado | Genomics England website |
| /?_escaped_fragment_=Guidelines | Subdominio Texto duplicado | Guidelines tab |
| /accounts/registration/ | Subdominio | PanelApp registration page |
| /cdn-cgi/l/email-protection | Texto duplicado | contact us |
| /accounts/login/ | Subdominio | Log in as a reviewer |
| / | Subdominio | homepage |
| /media/files/PanelApp_Handbook... | Texto duplicado | PanelApp Handbook V35 |
| /?_escaped_fragment_=Guidelines | Subdominio | Guidelines |
| /?_escaped_fragment_=Content | Subdominio | Contact, Sources and Glossary |
| http://www.ncbi.nlm.nih.gov/pu... | Externo Subdominio | PMID:12730697 |
| /cdn-cgi/l/email-protection | Texto duplicado | contact us |
| https://www.omim.org/ | Externo Subdominio Texto duplicado | OMIM |
| https://hpo.jax.org/ | Externo Subdominio | HPO |
| https://www.ncbi.nlm.nih.gov/p... | Externo Subdominio | PubMed |
| /cdn-cgi/l/email-protection | contact | |
| /media/files/PanelApp_Handbook... | Texto duplicado | PanelApp Handbook V35 |
| /cdn-cgi/l/email-protection | Texto duplicado | contact us |
| http://www.clinicalgenome.org/... | Externo Subdominio | ClinGen Clinical Validity Classifications |
| https://doi.org/10.1101/111039 | Externo | Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource. Strande et al |
| https://decipher.sanger.ac.uk/ddd | Externo Subdominio Texto ancla | The Development Disorder Genotype - Phenotype Database |
| http://www.ncbi.nlm.nih.gov/pu... | Externo Subdominio | PMID: 25529582 |
| /api/docs/ | Subdominio | See our full Swagger API documentation available here |
| /api/v1/panels/ | Subdominio | A list of panels |
| /api/v1/panels/20 | Subdominio | Example:Hereditary ataxia panel |
| /api/v1/panels/20/?version=1.0 | Subdominio | Example: Version 1.0 of the Hereditary ataxia panel |
| /api/v1/regions | Subdominio | A list of all Copy Number Variants |
| /api/v1/strs/ | Subdominio | A list of all Short Tandem Repeats |
| /api/v1/activities/ | Subdominio | Activities in PanelApp |
| /?_escaped_fragment_=Principles | Subdominio Texto duplicado | Guidelines tab |
| / | Subdominio Texto ancla Texto duplicado | WebServices |
| /media/files/PanelApp_Handbook... | Texto duplicado | PanelApp Handbook V35 |
| /cdn-cgi/l/email-protection | Texto duplicado | contact |
| /cdn-cgi/l/email-protection | Texto duplicado | contact |
| /?_escaped_fragment_=News | Subdominio | PanelApp news |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| /cdn-cgi/l/email-protection | Texto duplicado | [email protected] |
| https://www.ncbi.nlm.nih.gov/p... | Externo Subdominio Texto duplicado | PubMed |
| /media/files/GEL_-_PanelApp_Te... | Genomics England PanelApp Terms of Use, Dec 2019 | |
| https://www.radboudumc.nl/Info... | Externo Subdominio | Radboud University Medical Center |
| http://www.illumina.com/clinic... | Externo Subdominio Texto ancla | Illumina TruGenome |
| http://www.illumina.com/conten... | Externo Subdominio | Predisposition Screen |
| http://www.geneticslab.emory.edu/ | Externo Subdominio | Emory Genetic Laboratory |
| http://ukgtn.nhs.uk/ | Externo | UK Genetic Testing Network |
| http://www.ensembl.org/index.html | Externo Subdominio Texto duplicado | Ensembl |
| http://www.ncbi.nlm.nih.gov/omim | Externo Subdominio Texto duplicado | OMIM |
| http://www.ebi.ac.uk/gene2phen... | Externo Subdominio Texto duplicado | Gene2Phenotype |
| https://decipher.sanger.ac.uk/ddd | Externo Subdominio Texto ancla Texto duplicado | The Development Disorder Genotype - Phenotype Database |
| http://www.orpha.net/consor/cg... | Externo Subdominio Texto duplicado | Orphanet |
| http://ghr.nlm.nih.gov/ | Externo Subdominio | The NCBI Genetics Home Reference |
| http://www.genenames.org/ | Externo Subdominio Texto duplicado | HGNC |
| https://search.clinicalgenome.... | Externo Subdominio | ClinGen Gene Validity Curations |
| https://www.vcgs.org.au/ | Externo Subdominio Texto duplicado | Victorian Clinical Genetics Services |
| https://search.clinicalgenome.... | Externo Subdominio Texto duplicado | ClinGen Gene Validity Curations |
| https://www.sfari.org/resource... | Externo Subdominio | Gene database |
| https://www.ncbi.nlm.nih.gov/p... | Externo Subdominio Texto duplicado | ClinGen Dosage Sensitivity Map |
| http://www.ncbi.nlm.nih.gov/cl... | Externo Subdominio Texto duplicado | ClinVar |
| http://www.ebi.ac.uk/gene2phen... | Externo Subdominio Texto duplicado | Gene2Phenotype |
| https://decipher.sanger.ac.uk/ddd | Externo Subdominio Texto ancla Texto duplicado | The Development Disorder Genotype - Phenotype Database |
| http://www.ncbi.nlm.nih.gov/omim | Externo Subdominio Texto duplicado | OMIM |
| http://www.ensembl.org/index.html | Externo Subdominio Texto duplicado | Ensembl |
| http://www.ncbi.nlm.nih.gov/pu... | Externo Subdominio Texto duplicado | PubMed |
| https://www.genomicsengland.co... | Externo Subdominio | The eligibility statements are available here |
| /panels/150/ | Subdominio | Rare multisystem ciliopathy disorders panel |
| /panels/251/ | Subdominio | Deafness and congenital structural abnormalities panel |
| /panels/47/ | Subdominio Texto duplicado | Dilated Cardiomyopathy and conduction defects |
| /panels/53/ | Subdominio Texto duplicado | Ehlers-Danlos syndromes panel |
| /panels/53/ | Subdominio Texto duplicado | Ehlers-Danlos syndromes panel |
| /panels/254/ | Subdominio | GI Tract panel |
| /panels/254/ | Subdominio Texto duplicado | GI Tract panel |
| /panels/65/ | Subdominio | Lymphatic Disorders panel |
| https://www.england.nhs.uk/pub... | Externo Subdominio | National Genomic Test Directory for cancer |
| http://www.genomicsengland.co.... | Externo Subdominio Texto duplicado | Genomics England website |
| /media/files/PanelApp_Handbook... | Texto duplicado | PanelApp Handbook V35 |
| /media/files/PanelApp_Handbook... | Texto duplicado | PanelApp Handbook V35 |
| http://www.genenames.org/ | Externo Subdominio | HGNC-approved symbol |
| https://www.ensembl.org/Homo_s... | Externo Subdominio | Ensembl release 90 |
| http://www.genenames.org/ | Externo Subdominio | HGNC-approved name |
| https://www.ensembl.org/Homo_s... | Externo Subdominio Texto duplicado | Ensembl release 90 |
| http://www.ncbi.nlm.nih.gov/omim | Externo Subdominio Texto duplicado | OMIM |
| http://www.ebi.ac.uk/gene2phen... | Externo Subdominio | gene2phenotype |
| http://omim.org/ | Externo Texto duplicado | OMIM |
| http://www.ncbi.nlm.nih.gov/cl... | Externo Subdominio | Clinvar |
| http://www.ncbi.nlm.nih.gov/pu... | Externo Subdominio | PMID: 25911073 |
| http://www.ensembl.org/info/ge... | Externo Subdominio Texto ancla Texto duplicado | Ensembl |
| /media/files/PanelApp_Tags_Oct... | Texto duplicado | Texto ancla no relevante here |
| Nombre | Valor |
|---|---|
| date | Sun, 29 Sep 2024 14:27:58 GMT |
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Se han encontrado las siguientes palabras clave. Comprueba si esta página está bien optimizada para cada palabra clave en concreto.
| Palabra clave | Resultado | Comprobar |
|---|---|---|
| Genomic | 82% | Check |
| panel | 78% | Check |
| PanelApp | 78% | Check |
| Genomics | 77% | Check |
| England | 77% | Check |
| Genomics England | 77% | Check |
| PanelApp Genomics | 73% | Check |
| Genomics England PanelApp | 72% | Check |
| Genomics England Rare | 68% | Check |
| Genomics England clinical | 67% | Check |
| Genomics England curation | 67% | Check |
| Genomics England website | 67% | Check |
| Genomics England Curators | 67% | Check |
| or genomic | 66% | Check |
| gene genomic | 66% | Check |
| PanelApp Gene Panel | 66% | Check |
| Genomic Medicine | 65% | Check |
| National Genomic | 65% | Check |
| Genomic Test | 65% | Check |
| genes genomic | 65% | Check |
| genomic entities | 65% | Check |
| Panels Genomic | 65% | Check |
| Genomics England gene panel | 65% | Check |
| NHS England | 64% | Check |
| Genomic Imprinting | 64% | Check |
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