Retinal disordersGene: CA4
This gene has been demoted from green to amber because there are only 2 published cases (PMID: 15563508; 17652713;15090652).
Created: 30 Aug 2019, 2:52 p.m. | Last Modified: 30 Aug 2019, 2:52 p.m.
Panel Version: 1.160
p.ARG14TRP is too common to a dominant RP mutation. P.ARG219SER is rare but we have ruled this out in ou UK family. Arg69His is in 1 in 3000 SA individuals in gnomAD making it too common. Therefore there is no evidence for CA in IRD.
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
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 Expert Review Amber was added to CA4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source NHS GMS was added to CA4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for gene: CA4 were set to
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene CA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CA4 was created by ellenmcdonagh
CA4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green