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Inborn errors of metabolism

Gene: PPM1B

Red List (low evidence)

PPM1B (protein phosphatase, Mg2+/Mn2+ dependent 1B)
EnsemblGeneIds (GRCh38): ENSG00000138032
EnsemblGeneIds (GRCh37): ENSG00000138032
OMIM: 603770, Gene2Phenotype
PPM1B is in 2 panels

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Associated with 2p21 deletion syndrome - pleitropic effects with phenotypes including hypotonia and cystinuria
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only))

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
OMIM
603770
Clinvar variants
Variants in PPM1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PPM1B. Source London North GLH was added to PPM1B.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PPM1B was added gene: PPM1B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PPM1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1B were set to 27604308; 15913950; 11524703 Phenotypes for gene: PPM1B were set to Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only))