Congenital Heart Defect
Gene: CTNNB1

CTNNB1 (catenin beta 1)
EnsemblGeneIds (GRCh38): ENSG00000168036
EnsemblGeneIds (GRCh37): ENSG00000168036
OMIM: 116806, Gene2Phenotype
CTNNB1 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075

Created: 3 Aug 2023, 2:56 a.m.
Last Modified: 3 Aug 2023, 2:56 a.m.
Panel version: 0.289

Lilian Downie (Victorian Clinical Genetics Services)

Paper reviewing 19 patients; five cases presenting with different types of CHDs, including absent pulmonary valve (APV) with intact ventricular septum (IVS),
atrioventricular canal defect (AVCD), tetralogy of Fallot (ToF), and
mitral valve prolapse (MPV).
Lit review summarised about 25% of patients will have a cardiac anomaly as part of the phenotype.
Sources: Literature
Created: 3 Aug 2023, 2:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075

Publications

PMID: 37455656

Created: 3 Aug 2023, 2:48 a.m.

Panel version: 0.289

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075

OMIM

116806

Clinvar variants

Variants in CTNNB1

Penetrance

None

Publications

PMID: 37455656

Panels with this gene