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Intellectual disability syndromic and non-syndromic

Gene: PPM1K

Amber List (moderate evidence)

PPM1K (protein phosphatase, Mg2+/Mn2+ dependent 1K)
EnsemblGeneIds (GRCh38): ENSG00000163644
EnsemblGeneIds (GRCh37): ENSG00000163644
OMIM: 611065, Gene2Phenotype
PPM1K is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID: 36706222 reported a patient with MSUD with mild findings and elevated BCAA levels carrying a novel homozygous start-loss variant in PPM1K.
Created: 18 Feb 2023, 6:34 a.m. | Last Modified: 18 Feb 2023, 6:34 a.m.
Panel Version: 0.5175
One family reported, plus treatment should prevent cognitive involvement.
Created: 8 Dec 2019, 11:51 p.m. | Last Modified: 8 Dec 2019, 11:51 p.m.
Panel Version: 0.987

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maple syrup urine disease, mild variant, MIM#615135

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Maple syrup urine disease, mild variant, MIM#615135
OMIM
611065
Clinvar variants
Variants in PPM1K
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPM1K were set to 23086801

18 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppm1k has been classified as Amber List (Moderate Evidence).

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppm1k has been classified as Red List (Low Evidence).

8 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPM1K were changed from to Maple syrup urine disease, mild variant, MIM#615135

8 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPM1K were set to

8 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPM1K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppm1k has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPM1K was added gene: PPM1K was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPM1K was set to Unknown