Malformations of cortical development
Gene: CTNNA2
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
13 children from three unrelated families reported.
Sources: Expert listCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: CTNNA2.
Source Expert Review Green was added to CTNNA2. Source NHS GMS was added to CTNNA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: CTNNA2.
Gene: ctnna2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CTNNA2 were changed from Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 to Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174
gene: CTNNA2 was added gene: CTNNA2 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNA2 were set to 30013181 Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Review for gene: CTNNA2 was set to GREEN gene: CTNNA2 was marked as current diagnostic