G2P

GenCC Ref: GENCC:000112

G2P

This page is a summary of submissions provided by G2P. Click here to be notified about GenCC updates.

G2P (gene2phenotype) is a publicly-accessible online system designed to facilitate the development, validation, curation and distribution of large-scale, evidence-based datasets for use in diagnostic variant filtering. Each G2P entry associates an allelic requirement and a mutational consequence at a defined locus with a disease entity. A confidence level and evidence link are assigned to each entry.


Website
Personnel
Sarah Hunt
Email: g2p-help@ebi.ac.uk

Assertion Criteria

Submissions

3327 total number of submissions
Filters:

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autosomal recessive nonsyndromic hearing loss 29
Submitted as: OMIM:614035
AR
04/08/2025
Evaluated
07/02/2025
Submitted
familial pityriasis rubra pilaris
Submitted as: OMIM:173200
AD
01/20/2025
Evaluated
07/02/2025
Submitted
Stormorken syndrome
Submitted as: OMIM:185070
AD
01/20/2025
Evaluated
07/02/2025
Submitted
xeroderma pigmentosum group D
Submitted as: OMIM:278730
AR
11/29/2016
Evaluated
07/02/2025
Submitted
familial adenomatous polyposis 2
Submitted as: OMIM:608456
AR
01/19/2023
Evaluated
07/02/2025
Submitted
mismatch repair cancer syndrome 3
Submitted as: OMIM:619097
AR
11/29/2016
Evaluated
07/02/2025
Submitted
SMARCB1-related schwannomatosis
Submitted as: OMIM:162091
AD
01/27/2025
Evaluated
07/02/2025
Submitted
paragangliomas 5
Submitted as: OMIM:614165
AD
01/27/2025
Evaluated
07/02/2025
Submitted
Wilms tumor 1
Submitted as: OMIM:194070
AD
03/07/2019
Evaluated
07/02/2025
Submitted
familial meningioma
Submitted as: OMIM:607174
AD
11/30/2022
Evaluated
07/02/2025
Submitted
DDX41-related hematologic malignancy predisposition syndrome
Submitted as: OMIM:616871
AD
11/30/2022
Evaluated
07/02/2025
Submitted
neuroblastoma, susceptibility to, 3
Submitted as: OMIM:613014
AD
01/16/2025
Evaluated
07/02/2025
Submitted
polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
Submitted as: OMIM:175510
AD
11/30/2022
Evaluated
07/02/2025
Submitted
anauxetic dysplasia 2
Submitted as: OMIM:617396
AR
12/20/2023
Evaluated
07/02/2025
Submitted
amyloidosis, hereditary systemic 1
Submitted as: OMIM:105210
AD
03/26/2024
Evaluated
07/02/2025
Submitted
hypertrophic cardiomyopathy 13
Submitted as: OMIM:613243
AD
03/07/2025
Evaluated
07/02/2025
Submitted
retinitis pigmentosa 4
Submitted as: OMIM:613731
AD
10/14/2024
Evaluated
07/02/2025
Submitted
autosomal recessive nonsyndromic hearing loss 36
Submitted as: OMIM:609006
AR
04/08/2025
Evaluated
07/02/2025
Submitted
autosomal recessive nonsyndromic hearing loss 35
Submitted as: OMIM:608565
AR
04/08/2025
Evaluated
07/02/2025
Submitted
autosomal dominant nonsyndromic hearing loss 10
Submitted as: OMIM:601316
AD
04/08/2025
Evaluated
07/02/2025
Submitted

The GenCC data are 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 accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

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.