Craniosynostosis

Gene: PPP1CB

Amber List (moderate evidence)

PPP1CB (protein phosphatase 1 catalytic subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000213639
EnsemblGeneIds (GRCh37): ENSG00000213639
OMIM: 600590, Gene2Phenotype
PPP1CB is in 12 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to amber. Amber rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. A Noonan syndrome-related gene, but the group decided it should be Amber as there is a less well-evidenced association with craniosynostosis than other Noonan genes
Created: 21 May 2019, 4:07 p.m.
Adding gene following GMS musculoskeletal specialist test group Webex on 2019-05-13. This is a known Noonan syndrome gene.
Sources: Expert list
Created: 21 May 2019, 4:06 p.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 2 617506
OMIM
600590
Clinvar variants
Variants in PPP1CB
Penetrance
None
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anagen hair 2 617506

21 May 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ppp1cb has been classified as Amber List (Moderate Evidence).

21 May 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: PPP1CB was added gene: PPP1CB was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: PPP1CB was set to AMBER