Retinal disorders

Gene: CA4

Red List (low evidence)

PMID 15090652: 24 affected individuals from two SA families reported with p.Arg14Trp variant. Another Caucasian family reported in PMID 15563508. This variant is present in 61 hets in gnomad. PMID 15563508 reported another family with p.Arg219Ser. This variant is present in 4 hets in gnomad. PMID 17652713: an individual reported with p.Arg69His. This variant is present in 11 hets in gnomad. Mouse model does not have an eye phenotype. In the absence of other supporting data, the relatively high frequency of the reported variants raises significant concerns about the validity of this gene-disease relationship.

Created: 10 Oct 2020, 6:44 a.m. | Last Modified: 10 Oct 2020, 6:44 a.m.

Panel Version: 2.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 17, MIM# 600852

Publications

• 15563508
• 15090652
• 17652713
• 16260723

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the external reviews and available evidence the rating of this gene should be re-reviewed by the GMS specialist group at the next review. Have tagged with "for-review".

Created: 6 Jan 2021, 11:52 a.m. | Last Modified: 6 Jan 2021, 11:52 a.m.

Panel Version: 2.47

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

Red List (low evidence)

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.