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  2. Cardiomyopathy_Paediatric
  3. PPP1CB
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Cardiomyopathy_Paediatric

Gene: PPP1CB

Green List (high evidence)
PPP1CB (protein phosphatase 1 catalytic subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000213639
EnsemblGeneIds (GRCh37): ENSG00000213639
OMIM: 600590, Gene2Phenotype
PPP1CB is in 10 panels

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Details

Mode of Inheritance
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
OMIM
600590
Clinvar variants
Variants in PPP1CB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPP1CB was added gene: PPP1CB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27264673; 28211982; 27681385 Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506