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Retinal disorders

Gene: CTNNA1

Green List (high evidence)

CTNNA1 (catenin alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000044115
EnsemblGeneIds (GRCh37): ENSG00000044115
OMIM: 116805, Gene2Phenotype
CTNNA1 is in 1 panel

3 reviews

Hannah Knight (Moorfields Eye Hospital)

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

Zornitza Stark (Australian Genomics)

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

Ivone Leong (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • RetNet
Phenotypes
  • Macular dystrophy, patterned, 2, OMIM:608970
  • exudative vitreoretinopathy, MONDO:0019516
OMIM
116805
Clinvar variants
Variants in CTNNA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CTNNA1 were set to 26691986; 33497368

8 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: CTNNA1. Tag Q1_22_NHS_review was removed from gene: CTNNA1.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to CTNNA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Jan 2022, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q1_22_NHS_review tag was added to gene: CTNNA1.

20 Apr 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CTNNA1 were changed from Macular dystrophy, patterned, 2, OMIM:608970 to Macular dystrophy, patterned, 2, OMIM:608970; exudative vitreoretinopathy, MONDO:0019516

20 Apr 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CTNNA1 were set to 26691986

6 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: CTNNA1.

6 Jan 2021, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CTNNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CTNNA1 were changed from to Macular dystrophy, patterned, 2, OMIM:608970

6 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CTNNA1 were set to

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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