CTNNB1

catenin beta 1
OMIM: 116806, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CTNNB1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	2 reviews	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 0.430	2 reviews	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 1.2302	2 reviews	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 1.295	1 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 0.540	0 reviews	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 1.63	1 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
Green CTNNB1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.219 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	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 disorders Version 1.5 Component of the following Super Panels: Retinal Disorders Superpanel	1 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 1.313	2 reviews	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