Intellectual disability
Gene: PPP1CB

PPP1CB (protein phosphatase 1 catalytic subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000213639
EnsemblGeneIds (GRCh37): ENSG00000213639
OMIM: 600590, Gene2Phenotype
PPP1CB is in 11 panels

4 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 4:13 p.m.

Sufficient cases, ID is a predominant feature. Only missense reported to date
Created: 31 Oct 2017, noon

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

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

Mode of pathogenicity
Other

Created: 31 Oct 2017, noon

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.22

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Monoallelic (AD) mode of inheritance supported by OMIM and DD-G2P.
Created: 3 Oct 2017, 11:34 a.m.

Comment on list classification: Updated rating from Amber to Green based on new OMIM gene/disease relationship for MIM:617506.
In 4 unrelated patients with Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; 617506), Gripp et al. (2016) identified heterozygosity for de novo missense mutations in the PPP1CB gene. All had developmental delay. Plus confirmed DD-G2P gene for 'Rasopathy with developmental delay, short stature and sparse slow-growing hair'.
Created: 15 Aug 2017, 8:36 a.m.

Created: 15 Aug 2017, 8:35 a.m.

Panel version: 1.357

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:07 p.m.

Mode of inheritance
Unknown

Publications

25529582

Created: 2 Aug 2017, 9:47 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:23 p.m.

Created: 28 Jul 2017, 3:23 p.m.

Panel version: 1.314

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert Review Green

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

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

3 Oct 2017, Gel status: 4