Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CTNNA1

CTNNA1 (catenin alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000044115
EnsemblGeneIds (GRCh37): ENSG00000044115
OMIM: 116805, Gene2Phenotype
CTNNA1 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo insertion (p.Val374_375ins) was identified in an individual from a screen of patients with syndromic craniosynostosis. This patient had sagittal craniosynostosis (PMID:31292255).
Sources: Literature
Created: 20 Jul 2023, 10:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 20 Jul 2023, 10:58 a.m.

Panel version: 4.115

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

116805

Clinvar variants

Variants in CTNNA1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Jul 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CTNNA1 was added gene: CTNNA1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNNA1 were set to 31292255; 36980886 Phenotypes for gene: CTNNA1 were set to craniosynostosis, MONDO:0015469 Review for gene: CTNNA1 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: CTNNA1