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  3. ADGRV1
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Deafness_Isolated

Gene: ADGRV1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported. Previously known as GPR98. Rated as DEFINITIVE by ClinGen for association with Usher syndrome, but DISPUTED for isolated deafness.
Created: 25 Sep 2020, 9:52 a.m. | Last Modified: 25 Sep 2020, 9:52 a.m.
Panel Version: 0.398

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 2C, MIM# 605472

Publications

Created: 25 Sep 2020, 9:52 a.m.
Last Modified: 25 Sep 2020, 9:52 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.398

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 2C, MIM# 605472
OMIM
602851
Clinvar variants
Variants in ADGRV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adgrv1 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADGRV1 were changed from Usher syndrome to Usher syndrome, type 2C, MIM# 605472

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADGRV1 were set to

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADGRV1 was added gene: ADGRV1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRV1 were set to Usher syndrome