Genomics England PanelApp

GenCC Ref: GENCC:000104

Genomics England PanelApp

This page is a summary of pilot submissions provided by Genomics England PanelApp. Click here to be notified about GenCC updates.

Genomics England's PanelApp is a knowledgebase of curated gene panels which crowdsources expert reviews for gene-disease validity assessment The gene panels are utilised by Genomics England’s genome interpretation services, support a consensus in gene content for the NHSE Genomic Medicine Service, as well as worldwide for omics analysis.


Website
Personnel
Catherine Snow, Coordinator
Email: Catherine.Snow@genomicsengland.co.uk

Assertion Criteria

Submissions

1250 total number of submissions
Filters:

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Ehlers-Danlos syndrome, kyphoscoliotic type 1
Submitted as: OMIM:225400
AR
03/04/2020
Evaluated
03/31/2021
Submitted
brittle cornea syndrome 1
Submitted as: OMIM:229200
AR
03/04/2020
Evaluated
03/31/2021
Submitted
Ehlers-Danlos syndrome due to tenascin-X deficiency
Submitted as: OMIM:606408
AR
03/04/2020
Evaluated
03/31/2021
Submitted
aneurysm-osteoarthritis syndrome
Submitted as: OMIM:613795
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Loeys-Dietz syndrome
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Submitted as: OMIM:612350
AR
03/04/2020
Evaluated
03/31/2021
Submitted
Shprintzen-Goldberg syndrome
Submitted as: OMIM:182212
AD
03/04/2020
Evaluated
03/31/2021
Submitted
gaze palsy, familial horizontal, with progressive scoliosis 1
Submitted as: OMIM:607313
AR
03/04/2020
Evaluated
03/31/2021
Submitted
RIN2 syndrome
Submitted as: OMIM:613075
AR
03/04/2020
Evaluated
03/31/2021
Submitted
autosomal recessive cutis laxa type 2B
Submitted as: OMIM:612940
AR
03/04/2020
Evaluated
03/31/2021
Submitted
PYCR1-related de Barsy syndrome
Submitted as: OMIM:614438
AR
03/04/2020
Evaluated
03/31/2021
Submitted
brittle cornea syndrome 2
Submitted as: OMIM:614170
AR
03/04/2020
Evaluated
03/31/2021
Submitted
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Submitted as: OMIM:613177
AR
03/04/2020
Evaluated
03/31/2021
Submitted
amyotrophic lateral sclerosis type 5
Submitted as: OMIM:602099
AR
01/04/2021
Evaluated
03/31/2021
Submitted
dopa-responsive dystonia due to sepiapterin reductase deficiency
Submitted as: OMIM:612716
AR
02/18/2021
Evaluated
03/31/2021
Submitted
torsion dystonia 6
Submitted as: OMIM:602629
AD
02/18/2021
Evaluated
03/31/2021
Submitted
deafness dystonia syndrome
Submitted as: OMIM:304700
XL
02/18/2021
Evaluated
03/31/2021
Submitted
early-onset generalized limb-onset dystonia
Submitted as: OMIM:128100
AD
02/18/2021
Evaluated
03/31/2021
Submitted
torsion dystonia 4
Submitted as: OMIM:128101
AD
02/18/2021
Evaluated
03/31/2021
Submitted
chorea-acanthocytosis
Submitted as: OMIM:200150
AR
02/18/2021
Evaluated
03/31/2021
Submitted

The GenCC database is currently released under a Fort Lauderdale Agreement for the benefit of the wider biomedical community. You can freely download and search the data, and we encourage the use and publications of validity data for specific targeted sets of genes. However, we ask that you not publish global (site-wide) analyses of these data, or of large gene sets, until after the GenCC flagship paper has been published (estimated to be spring 2021). After the flagship publication, data will be available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.