ClinGen Gene Validity Curations
Gene: ADGRV1

ADGRV1 (adhesion G protein-coupled receptor V1)
EnsemblGeneIds (GRCh38): ENSG00000164199
EnsemblGeneIds (GRCh37): ENSG00000164199
OMIM: 602851, Gene2Phenotype
ADGRV1 is in 10 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (09/15/2016) and Expert curation reviewed by the ClinGen Hearing Loss Working Group (02/15/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/5663
Created: 12 Apr 2017, 1:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 23 Jun 2017, 11:51 a.m.

Panel version: 0.58

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

ClinGen
Expert Review Green
Other

Phenotypes

Usher Syndrome, Type 2C
Orphanet:231178
OMIM:605472

OMIM

602851

Clinvar variants

Variants in ADGRV1

Penetrance

Complete

Publications

Panels with this gene