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Microcephaly

Gene: CTNNA2

Green List (high evidence)
CTNNA2 (catenin alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000066032
EnsemblGeneIds (GRCh37): ENSG00000066032
OMIM: 114025, Gene2Phenotype
CTNNA2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

13 children from three unrelated families reported, severe ID as part of the phenotype
Created: 30 Nov 2019, 12:28 a.m. | Last Modified: 30 Nov 2019, 12:28 a.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Nov 2019, 12:28 a.m.
Last Modified: 30 Nov 2019, 12:28 a.m.
Panel version: Imported from Lissencephaly and band heterotopia_AustralianGenomics_VCGS panel version 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
OMIM
114025
Clinvar variants
Variants in CTNNA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, MIM#618174

30 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctnna2 has been classified as Green List (High Evidence).

30 Nov 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, MIM#618174

30 Nov 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTNNA2 were changed from to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174

30 Nov 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTNNA2 were set to

30 Nov 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTNNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTNNA2 was added gene: CTNNA2 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTNNA2 was set to Unknown