Retinal disordersGene: CERKL
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa 26
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.
Comment on mode of inheritance: Homozygous or compound heterozygous.
Created: 21 Mar 2016, 4:50 p.m.
Source NHS GMS was added to CERKL. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for CERKL was changed to BIALLELIC, autosomal or pseudoautosomal
CERKL was created by ellenmcdonagh
CERKL was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green