Retinal disorders
Gene: CTNNA1
First reported in Nature Genetics in 2016 in three families. We then identified 11 affected patients from 6 unrelated families in a paper published in 2020Created: 20 Jan 2022, 12:27 p.m. | Last Modified: 20 Jan 2022, 12:27 p.m.
Panel Version: 2.242
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macular dystrophy
Publications
In addition, three independent families reported with familial exudative vitreoretinopathy (FEVR) in PMID33497368.Created: 19 Apr 2021, 8:44 a.m. | Last Modified: 19 Apr 2021, 8:44 a.m.
Panel Version: 2.177
Three families reported.Created: 10 Oct 2020, 7:10 a.m. | Last Modified: 10 Oct 2020, 7:10 a.m.
Panel Version: 2.17
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970; Familial exudative vitreoretinopathy
Publications
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. PMID: 26691986a also describes a mouse model that mimics the human phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 6 Jan 2021, 2:33 p.m. | Last Modified: 6 Jan 2021, 2:33 p.m.
Panel Version: 2.63
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Publications for gene: CTNNA1 were set to 26691986; 33497368
Tag for-review was removed from gene: CTNNA1. Tag Q1_22_NHS_review was removed from gene: CTNNA1.
Source Expert Review Green was added to CTNNA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: CTNNA1.
Phenotypes for gene: CTNNA1 were changed from Macular dystrophy, patterned, 2, OMIM:608970 to Macular dystrophy, patterned, 2, OMIM:608970; exudative vitreoretinopathy, MONDO:0019516
Publications for gene: CTNNA1 were set to 26691986
Tag for-review tag was added to gene: CTNNA1.
Mode of inheritance for gene: CTNNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNNA1 were changed from to Macular dystrophy, patterned, 2, OMIM:608970
Publications for gene: CTNNA1 were set to
gene: CTNNA1 was added gene: CTNNA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: CTNNA1 was set to