Retinal disordersGene: MYO7A
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Deafness, autosomal dominant 11 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Deafness, autosomal recessive 2 (BIALLELIC, autosomal or pseudoautosomal); Usher syndrome, type 1B (BIALLELIC, autosomal or pseudoautosomal)
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, 8:04 a.m.
Comment on mode of inheritance: Biallelic for Usher Syndrome, type 1B (Source: OMIM and G2P).
Created: 22 Mar 2016, 1:23 p.m.
Phenotypes for gene: MYO7A were changed from Eye Disorders to Usher syndrome, type 1B, OMIM:276900
Source NHS GMS was added to MYO7A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MYO7A was changed to BIALLELIC, autosomal or pseudoautosomal
MYO7A was created by ellenmcdonagh
MYO7A was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green