PPP1CB

protein phosphatase 1 catalytic subunit beta
OMIM: 600590, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Amber PPP1CB in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber 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 Pigmentary skin disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Expert Review Green Phenotypes NSLH2 Rasopathy with developmental delay, short stature and sparse slow-growing hair NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 Noonan syndrome-like disorder with loose anagen hair 2, 617506
Amber PPP1CB in Adult solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.29 Latest signed off version: v2.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber 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 Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair
Amber PPP1CB in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 617506
Green PPP1CB in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair
Green PPP1CB in Growth failure in early childhood Version 3.95 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, OMIM:617506
Green PPP1CB in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 617506
Green PPP1CB in RASopathies Level 3: RASopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.81	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 Rasopathy with developmental delay, short stature and sparse slow-growing hair
Green PPP1CB in Primary lymphoedema Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 3.11 Latest signed off version: v3.0 (30 Nov 2022)	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 Paediatric or syndromic cardiomyopathy Version 3.47 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert List London South GLH Expert Review Green 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 Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506