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

2436 total number of submissions
Filters:

Loading...
lissencephaly 10
Submitted as: OMIM:618873
AD
09/09/2021
Evaluated
09/11/2023
Submitted
Ullrich congenital muscular dystrophy 1
Submitted as: OMIM:254090
AD
07/09/2021
Evaluated
09/11/2023
Submitted
mitochondrial complex 1 deficiency, nuclear type 23
Submitted as: OMIM:618244
AR
07/16/2021
Evaluated
09/11/2023
Submitted
isolated growth hormone deficiency, type 5
Submitted as: OMIM:618160
AR
07/16/2021
Evaluated
09/11/2023
Submitted
Bardet-Biedl syndrome 22
Submitted as: OMIM:617119
AR
07/16/2021
Evaluated
09/11/2023
Submitted
hyperekplexia 1
Submitted as: OMIM:149400
AD
07/29/2021
Evaluated
09/11/2023
Submitted
hyperekplexia 1
Submitted as: OMIM:149400
AR
07/29/2021
Evaluated
09/11/2023
Submitted
hyperekplexia 2
Submitted as: OMIM:614619
AR
07/29/2021
Evaluated
09/11/2023
Submitted
pyridoxal phosphate-responsive seizures
Submitted as: OMIM:610090
AR
07/29/2021
Evaluated
09/11/2023
Submitted
polyhydramnios, megalencephaly, and symptomatic epilepsy
Submitted as: OMIM:611087
AR
01/28/2021
Evaluated
09/11/2023
Submitted
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Submitted as: OMIM:614739
AR
11/04/2021
Evaluated
09/11/2023
Submitted
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
Submitted as: OMIM:617820
AR
11/04/2021
Evaluated
09/11/2023
Submitted
fibrosis, neurodegeneration, and cerebral angiomatosis
Submitted as: OMIM:618278
AR
12/07/2021
Evaluated
09/11/2023
Submitted
Jawad syndrome
Submitted as: OMIM:251255
AR
12/07/2021
Evaluated
09/11/2023
Submitted
hypoinsulinemic hypoglycemia and body hemihypertrophy
Submitted as: OMIM:240900
AD
12/07/2021
Evaluated
09/11/2023
Submitted
intellectual developmental disorder, autosomal recessive 71
Submitted as: OMIM:618504
AR
12/07/2021
Evaluated
09/11/2023
Submitted
short-rib thoracic dysplasia 15 with polydactyly
Submitted as: OMIM:617088
AR
01/17/2022
Evaluated
09/11/2023
Submitted
Elsahy-Waters syndrome
Submitted as: OMIM:211380
AR
01/17/2022
Evaluated
09/11/2023
Submitted
glycogen storage disease due to glycogen branching enzyme deficiency
Submitted as: OMIM:232500
AR
07/09/2021
Evaluated
09/11/2023
Submitted
Ullrich congenital muscular dystrophy 1
Submitted as: OMIM:254090
AR
07/09/2021
Evaluated
09/11/2023
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.