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ADGRV1

adhesion G protein-coupled receptor V1

HCNC Approved Symbol
ADGRV1 (HGNC:17416)
Genomic Coordinates
5:90,558,797 - 91,164,437 (5q14.3)
Synonyms
DKFZp761P0710, KIAA0686, FEB4, VLGR1, USH2C, MASS1, GPR98
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Febrile seizures, familial, 4
604352AD
Usher syndrome, type 2C
605472AR; DD
Usher syndrome, type 2C, GPR98/PDZD7 digenic
605472AR; DD

Diagnosed Cases

24Patients

In total, 24 patients were diagnosed with a variant in the ADGRV1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hearing impairment
 8 (33.3%)
Retinitis pigmentosa
 7 (29.2%)
Hearing loss
 5 (20.8%)
Decreased visual acuity
 5 (20.8%)
Night blindness
 5 (20.8%)