Retinal disordersGene: ADGRV1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Usher syndrome, type 2C; Usher syndrome, type 2C, GPR98; PDZD7 digenic
Variants in this GENE are reported as part of current diagnostic practice
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:03 a.m.
Was on expert list as "GPR98" - ADGRV1 is the likely HGNC-approved symbol.
Created: 23 Mar 2016, 5:04 p.m.
Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C; Eye Disorders to Usher syndrome, type 2C, 605472; Eye Disorders; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
Source NHS GMS was added to ADGRV1. Rating Changed from Green List (high evidence) to Green List (high evidence)
ADGRV1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
ADGRV1 was created by ellenmcdonagh