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  3. CTNNB1
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Vitreoretinopathy

Gene: CTNNB1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple reports of variants in this gene associated with vitreoretinopathy, either isolated or in the context of a neurodevelopmental disorder.
Created: 16 Jan 2021, 9:07 a.m. | Last Modified: 16 Jan 2021, 9:07 a.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exudative vitreoretinopathy 7, MIM# 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075

Publications

Created: 16 Jan 2021, 9:07 a.m.
Last Modified: 16 Jan 2021, 9:07 a.m.
Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 7, MIM# 617572
  • 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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTNNB1 were changed from to Exudative vitreoretinopathy 7, MIM# 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTNNB1 were set to

16 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTNNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

gene: CTNNB1 was added gene: CTNNB1 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTNNB1 was set to Unknown