Retinal disordersGene: AHI1
Mode of inheritance
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, 8:03 a.m.
Comment on mode of inheritance: Biallelic for association with Joubert syndrome.
Created: 15 Mar 2016, 10:41 a.m.
Phenotypes for gene: AHI1 were changed from Eye Disorders; Joubert syndrome 17 to Eye Disorders; Joubert syndrome 3, 608629
Source NHS GMS was added to AHI1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for AHI1 were set to Eye Disorders; Joubert syndrome 17
Mode of inheritance for AHI1 was changed to BIALLELIC, autosomal or pseudoautosomal
AHI1 was created by ellenmcdonagh
AHI1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green