Pigmentary skin disorders

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 12 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2

Publications

Catherine Snow (Genomics England)

Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Green gene.
Created: 17 Sep 2019, 5:08 p.m. | Last Modified: 17 Sep 2019, 5:08 p.m.
Panel Version: 0.13

Details

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

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes NSLH2; NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 for gene: PPP1CB Publications for gene PPP1CB were changed from 27681385; 28211982; 27264673 to 27264673

3 Sep 2019, Gel status: 3

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

Catherine Snow (Genomics England)

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