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Fetal anomalies

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)

Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is characterized by global developmental delay, impaired intellectual development, axial hypotonia, and dysmorphic craniofacial features with microcephaly. Many patients have visual abnormalities, ranging from strabismus to optic nerve atrophy and retinal abnormalities. Affected individuals also develop spasticity, particularly of the lower limbs, and may have behavioral abnormalities.

Well established gene-disease association, more than 30 unrelated individuals reported.
Created: 25 Nov 2021, 9:58 p.m. | Last Modified: 25 Nov 2021, 9:58 p.m.
Panel Version: 0.725

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 25 Nov 2021, 9:58 p.m.
Last Modified: 25 Nov 2021, 9:58 p.m.
Panel version: 0.725

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32039639;
-1x proband with familial exudative vitreoretinopathy (FEVR) and microcephaly. Head circumference <1st centile

PMID: 25326669
- 15 families with 16 affecteds. de novo PTVs
- included 5 patients from published literature
- 10 out of 20 presented with microcephaly, head circumference < -3 SD
Sources: Literature
Created: 2 Sep 2020, 11:18 a.m.

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

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

Publications

Created: 2 Sep 2020, 11:18 a.m.

Panel version: Imported from Microcephaly panel version 0.361

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
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

25 Nov 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).

25 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTNNB1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 to Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075

25 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTNNB1 were set to 27915094

25 Nov 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNNB1 were set to 27915094 Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19