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  3. CTNNB1
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Syndromic Retinopathy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple ocular defects reported in the context of this neurodevelopmental disorder, including vitreoretinopathy.
Sources: Expert Review
Created: 16 Jan 2021, 9:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 16 Jan 2021, 9:10 a.m.

Panel version: 0.158

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM:
LoF - mainly non cancerous phenotypes, and
GoF - mainly cancer phenotypes.

Cancer hot spot in exon 3, mainly missenses affecting S33, S37, S45, T41, D32 and G34 (Gao. C. et al. 2017)
Created: 17 Mar 2020, 1:28 a.m. | Last Modified: 17 Mar 2020, 1:28 a.m.
Panel Version: 0.1714

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PMID: 29435196; PMID: 27915094; PMID: 30640974

Mode of pathogenicity
Other

Created: 17 Mar 2020, 1:28 a.m.
Last Modified: 17 Mar 2020, 1:28 a.m.
Panel version: Imported from Mendeliome panel version 0.1714

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
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, 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).

16 Jan 2021, 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).

16 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTNNB1 was added gene: CTNNB1 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTNNB1 were set to 33350591 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