1. Genes and Genomic Entities
  2. PPP1CB

PPP1CB

protein phosphatase 1 catalytic subunit beta
OMIM: 600590, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Amber PPP1CB in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

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


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

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 2: Cancer susceptibility
Version 2.35
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


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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 1.87

    		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 2: Cardiology
    Version 4.21
    Latest signed off version: v4.0 (30 Apr 2025)

    		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


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    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 Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Noonan syndrome-like disorder with loose anagen hair 2, OMIM:617506