PPP1CB

protein phosphatase 1 catalytic subunit beta
OMIM: 600590, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red PPP1CB in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506)
Green PPP1CB in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PPP1CB in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, OMIM # 617506
Green PPP1CB in Rasopathy Level 2: Dysmorphic and congenital abnormality syndromes Version 0.105	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 OMIM # 617506
Amber PPP1CB in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506
Green PPP1CB 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 Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506
Green PPP1CB in Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 617506
Green PPP1CB in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH Expert List NHS GMS Phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair Noonan syndrome-like disorder with loose anagen hair 2, 617506
Green PPP1CB in Growth failure Version 1.76	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 OMIM # 617506
Green PPP1CB in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Phenotypes Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506