Retinal disordersGene: ABHD12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
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.
Comment on mode of inheritance: Confirmed on OMIM.
Created: 15 Mar 2016, 10:33 a.m.
Source NHS GMS was added to ABHD12. 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 ABHD12 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
ABHD12 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
ABHD12 was created by ellenmcdonagh