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Cardiomyopathies - including childhood onset

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

Several literature reports with good evidence for causation. Noonan-like syndrome has congenitall heart abnormalities (restricted to structural abnormalities, no reports of HCM), so gene is appropriate for this panel on basis of congential cardiac abnormalities if panel is meant to encompass Rasopathies
Created: 26 Nov 2019, 5:07 p.m. | Last Modified: 26 Nov 2019, 5:10 p.m.
Panel Version: 0.13

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

Phenotypes
OMIM 617506 Noonan syndrome-like disorder with loose anagen hair 2

Publications

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P.
Created: 15 Aug 2017, 8:17 a.m.
Comment on list classification: Updated rating from Red to Green: >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, 8:16 a.m.
In a 12-year-old Brazilian boy with features of Noonan syndrome and hair abnormalities, Bertola et al. (2017, PMID:28211982) identified heterozygosity for the recurrent P49R mutation in PPP1CB.
Created: 15 Aug 2017, 8:14 a.m.
In a 9-year-old boy who was diagnosed with Noonan syndrome and also had unusual hair, Zambrano et al. (2017, PMID:27868344) identified heterozygosity for the P49R mutation in the PPP1CB gene, which was shown to have arisen de novo.
Created: 15 Aug 2017, 8:14 a.m.
In 4 unrelated patients with Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; 617506), Gripp et al. (2016, PMID:27264673) identified heterozygosity for de novo missense mutations in the PPP1CB gene, including a recurrent P49R substitution in 3 patients, and an A56P substitution in 1 patient.
Created: 15 Aug 2017, 8:14 a.m.

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

Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • London South GLH
  • Expert Review Green
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

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PPP1CB.

4 Sep 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Expert List was added to PPP1CB. Added phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB Publications for gene PPP1CB were changed from 27681385; 28211982; 27264673 to 28211982; 27264673; 27681385

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: PPP1CB was added gene: PPP1CB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH 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