Likely inborn error of metabolism
Gene: PPM1B

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

Created: 23 Feb 2017, 5:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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