Retinal disorders
Gene: CNGA1Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update - could not find any evidence to suggest that heterozygous variants can lead to disease. Family members of patients that are heterozygous carriers are unaffected.Created: 20 Feb 2024, 3:55 p.m. | Last Modified: 20 Feb 2024, 3:55 p.m.
Panel Version: 4.70
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 49
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.
Publications for gene: CNGA1 were set to
Mode of inheritance for gene: CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q1_24_MOI tag was added to gene: CNGA1.
Phenotypes for gene: CNGA1 were changed from Retinitis pigmentosa 49, RP49 (AR); Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa 49, 613756 to Retinitis pigmentosa 49, OMIM:613756
Source NHS GMS was added to CNGA1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
CNGA1 was created by ellenmcdonagh
CNGA1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green