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  2. Cerebral Palsy
  3. PPM1D
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Cerebral Palsy

Gene: PPM1D

Red List (low evidence)
PPM1D (protein phosphatase, Mg2+/Mn2+ dependent 1D)
EnsemblGeneIds (GRCh38): ENSG00000170836
EnsemblGeneIds (GRCh37): ENSG00000170836
OMIM: 605100, Gene2Phenotype
PPM1D is in 4 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Created: 27 May 2024, 12:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Jansen-de Vries syndrome, MIM#617450

Publications

Created: 27 May 2024, 12:47 p.m.

Panel version: 1.194

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Jansen-de Vries syndrome, MIM#617450
OMIM
605100
Clinvar variants
Variants in PPM1D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppm1d has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppm1d has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: PPM1D was added gene: PPM1D was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPM1D were set to PMID: 38693247 Phenotypes for gene: PPM1D were set to Jansen-de Vries syndrome, MIM#617450 Review for gene: PPM1D was set to RED