Malformations of cortical development
Gene: CTNNA2

CTNNA2 (catenin alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000066032
EnsemblGeneIds (GRCh37): ENSG00000066032
OMIM: 114025, Gene2Phenotype
CTNNA2 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.

Panel Version: 3.11

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). CTNNA2 is associated with a relevant phenotype in OMIM (MIM# 618174) and G2P ('probable' disease confidence rating). There is sufficient evidence to rate this gene as Green at the next GMS panel update - 13 patients from 3 unrelated families, pachygyria without posterior-anterior gradient or focal dysplasias was common to all.
Created: 8 Sep 2021, 1:40 p.m. | Last Modified: 8 Sep 2021, 1:40 p.m.

Panel Version: 2.72

Created: 8 Sep 2021, 1:40 p.m.
Last Modified: 8 Sep 2021, 1:40 p.m.
Panel version: 3.11

Zornitza Stark (Australian Genomics)

Green List (high evidence)

13 children from three unrelated families reported.
Sources: Expert list
Created: 27 Aug 2020, 10:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cortical dysplasia, complex, with other brain malformations 9, MIM#618174

Publications

30013181

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Aug 2020, 10:26 a.m.

Panel version: 2.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174

OMIM

114025

Clinvar variants

Variants in CTNNA2

Penetrance

None

Publications

30013181

Panels with this gene