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  3. ADGRV1
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BabyScreen+ newborn screening

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

The deafness is congenital.

Treatment: hearing aids/cochlear implant
Created: 7 Oct 2022, 4:30 a.m. | Last Modified: 7 Oct 2022, 4:30 a.m.
Panel Version: 0.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 2C, MIM# 605472

Created: 7 Oct 2022, 4:30 a.m.
Last Modified: 7 Oct 2022, 4:30 a.m.
Panel version: 0.486

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Usher syndrome, type 2C, MIM# 605472
Tags
deafness
OMIM
602851
Clinvar variants
Variants in ADGRV1
Penetrance
None
Panels with this gene

History Filter Activity

23 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deafness tag was added to gene: ADGRV1.

7 Oct 2022, 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).

7 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Sep 2022, 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 gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C