PPM1B

protein phosphatase, Mg2+/Mn2+ dependent 1B
OMIM: 603770, Gene2Phenotype

2 panels

Panel	Reviews	Mode of inheritance	Details
Red PPM1B in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Red PPM1B in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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))

Panel

Reviews

Mode of inheritance

Details

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review

BIALLELIC, autosomal or pseudoautosomal

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

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Childhood onset leukodystrophy

Hypotonic infant

Paediatric disorders

Unexplained death in infancy and sudden unexplained death in childhood

review

BIALLELIC, autosomal or pseudoautosomal

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