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  3. PPM1B
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TEST Undiagnosed metabolic disorders

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
OMIM
603770
Clinvar variants
Variants in PPM1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PPM1B was added gene: PPM1B was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: PPM1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1B were set to 27604308; 15913950; 11524703