CTNNB1

catenin beta 1
OMIM: 116806, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CTNNB1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075
Green CTNNB1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075
Green CTNNB1 in Mendeliome Version 1.1891	review	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
Green CTNNB1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects (MIM#615075) Exudative vitreoretinopathy 7 (MIM#617572)
Green CTNNB1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CTNNB1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075
Red CTNNB1 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes NA
Green CTNNB1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Green CTNNB1 in Vitreoretinopathy Level 2: Ophthalmological disoders Version 1.4 Component of the following Super Panels: Retinal Disorders Superpanel	review	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
Green CTNNB1 in Fetal anomalies Version 1.255	review	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