Retinal disorders

Gene: CTNNA1

Green List (high evidence)

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 2020

Created: 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

• PMID: 26691986
• 33137351

Green List (high evidence)

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

• 26691986
• 33497368

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. 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