Rasopathy
Gene: PPP1CBEnsemblGeneIds (GRCh38): ENSG00000213639
EnsemblGeneIds (GRCh37): ENSG00000213639
OMIM: 600590, Gene2Phenotype
PPP1CB is in 10 panels
1 review
Chirag Patel (Genetic Health Queensland)
> 20 patients reported from different families and different ethnicities with Noonan syndrome-like features and hair abnormalities. All patients so far with missense variants.
Sources: LiteratureCreated: 4 Jun 2020, 11:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2; OMIM # 617506
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Noonan syndrome-like disorder with loose anagen hair 2
- OMIM # 617506
- OMIM
- 600590
- Clinvar variants
- Variants in PPP1CB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ppp1cb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ppp1cb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PPP1CB was added gene: PPP1CB was added to Rasopathy. Sources: Literature Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP1CB were set to PMID: 32476286; 28211982; 27264673; 27681385; 27868344 Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2; OMIM # 617506 Review for gene: PPP1CB was set to GREEN