Retinal disordersGene: CACNA1F
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Aland Island eye disease; Cone-rod dystropy, X-linked, 3; Night blindness, congenital stationary (incomplete), 2A, X-linked
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.
Source NHS GMS was added to CACNA1F. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
CACNA1F was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
CACNA1F was created by ellenmcdonagh