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  3. PPM1D
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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is typically post-natal.
Created: 22 Feb 2022, 12:55 a.m. | Last Modified: 22 Feb 2022, 12:55 a.m.
Panel Version: 0.3864

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Jansen de Vries syndrome (MIM #617450)

Created: 22 Feb 2022, 12:55 a.m.
Last Modified: 22 Feb 2022, 12:55 a.m.
Panel version: 0.3864

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 28343630; 14 unrelated individuals with mild to severe ID and/or developmental delay
PMID: 31916397; 1 patient with Jansen-de Vries Syndrome
PMID: 30795918; 2 unrelated patients with moderate developmental delay and dysmorphic features
PMID: 29758292; 1 patient

All variants are NMD/truncating, occurring in the last 2 exons and have been described to be de novo.
Created: 30 Jan 2020, 3:20 a.m. | Last Modified: 30 Jan 2020, 3:20 a.m.
Panel Version: 0.1780

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Jansen de Vries syndrome (MIM #617450)

Publications

Created: 30 Jan 2020, 3:20 a.m.
Last Modified: 30 Jan 2020, 3:20 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1780

Details

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

History Filter Activity

22 Feb 2022, 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).

22 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPM1D were changed from PPM1D syndrome to Jansen de Vries syndrome (MIM #617450)

22 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPM1D were set to

22 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPM1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPM1D was added gene: PPM1D was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPM1D were set to PPM1D syndrome