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  3. CTNNB1
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Cerebral Palsy

Gene: CTNNB1

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

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

Additional 5 individuals reported with mono-allelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Created: 27 May 2024, 5:06 a.m. | Last Modified: 27 May 2024, 5:06 a.m.
Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 27 May 2024, 5:06 a.m.
Last Modified: 27 May 2024, 5:06 a.m.
Panel version: 1.193

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert Review
Created: 18 Feb 2020, 10:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 18 Feb 2020, 10:11 p.m.

Panel version: 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075
OMIM
116806
Clinvar variants
Variants in CTNNB1
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctnnb1 has been classified as Green List (High Evidence).

18 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctnnb1 has been classified as Green List (High Evidence).

18 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTNNB1 was added gene: CTNNB1 was added to Cerebral Palsy. Sources: Expert Review Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075 Review for gene: CTNNB1 was set to GREEN