This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: PPP1CB
PPP1CB (protein phosphatase 1 catalytic subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000213639
EnsemblGeneIds (GRCh37): ENSG00000213639
OMIM: 600590, Gene2Phenotype
PPP1CB is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000213639
EnsemblGeneIds (GRCh37): ENSG00000213639
OMIM: 600590, Gene2Phenotype
PPP1CB is in 11 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating to Amber awaiting external review: >3 unrelated cases of PPP1CB variants linked to Noonan syndrome-like disorder with loose anagen hair (MIM:617506), and confirmed DD-G2P gene for 'Rasopathy with developmental delay, short stature and sparse slow-growing hair'.Created: 15 Aug 2017, 8:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2, 617506
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Noonan syndrome-like disorder with loose anagen hair 2, 617506
- OMIM
- 600590
- Clinvar variants
- Variants in PPP1CB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
15 Aug 2017, Gel status: 2
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
15 Aug 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)PPP1CB was added to Undiagnosed neurocutaneous disorderspanel. Sources: Other
15 Aug 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)PPP1CB was created by rfoulger