Retinal disordersGene: AIPL1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Leber congenital amaurosis 4
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.
UKGTN source has Cone-rod dystrophy and Retinitis pigmentosa, juvenile as autosomal dominant mode of inheritance, Leber congenital amaurosis 4 as autosomal recessive mode of inheritance.
Created: 26 Apr 2016, 12:38 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 15 Mar 2016, 10:43 a.m.
Source NHS GMS was added to AIPL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for AIPL1 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy (AD); Leber congenital amaurosis 4 (AR); Retinitis pigmentosa, juvenile (AD); Leber Congenital Amaurosis; Leber congenital amaurosis; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393; Cone-rod dystrophy, 604393; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa
Publications for AIPL1 were set to
Mode of inheritance for AIPL1 was changed to BIALLELIC, autosomal or pseudoautosomal
AIPL1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
AIPL1 was created by ellenmcdonagh