Skeletal dysplasia
Gene: ADGRV1

ADGRV1 (adhesion G protein-coupled receptor V1)
EnsemblGeneIds (GRCh38): ENSG00000164199
EnsemblGeneIds (GRCh37): ENSG00000164199
OMIM: 602851, Gene2Phenotype
ADGRV1 is in 11 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association. Rated as DEFINITIVE by ClinGen for association with Usher syndrome, but DISPUTED for isolated deafness.

Questionable epilepsy association
Created: 28 Mar 2022, 5:19 a.m. | Last Modified: 28 Mar 2022, 5:19 a.m.

Panel Version: 0.12150

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472

Created: 28 Mar 2022, 5:19 a.m.
Last Modified: 28 Mar 2022, 5:19 a.m.
Panel version: Imported from Mendeliome panel version 0.12150

Details

Sources

Expert Review Green
Emory Genetics Laboratory

OMIM

602851

Clinvar variants

Variants in ADGRV1

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADGRV1 was added gene: ADGRV1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: ADGRV1 was set to

Skeletal dysplasia Gene: ADGRV1