Retinal disordersGene: SPATA7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Leber congenital amaurosis 3; Retinitis pigmentosa, juvenile, autosomal recessive
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, 8:05 a.m.
Source NHS GMS was added to SPATA7. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal
SPATA7 was created by ellenmcdonagh
SPATA7 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green