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Gene: ADGRV1

Green List (high evidence)

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).

HGNC approved symbol/name: ADGRV1
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: N/A
Known technical challenges? No

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

Created: 9 Sep 2024, 6:49 a.m. | Last Modified: 9 Sep 2024, 6:49 a.m.

Panel Version: 1.287

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 2C, MIM# 605472 (3)

Publications

• 19357117