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  3. PPM1K
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Aminoacidopathy

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

2 reviews

Suliman Khan (Victorian Clinical Genetics Services)

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. (PMID: 36706222).
Created: 30 Jan 2023, 1:13 a.m. | Last Modified: 30 Jan 2023, 1:13 a.m.
Panel Version: 1.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maple syrup urine disease (MSUD)

Publications

Created: 30 Jan 2023, 1:13 a.m.
Last Modified: 30 Jan 2023, 1:13 a.m.
Panel version: 1.1

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 19 Apr 2022, 6:44 a.m. | Last Modified: 19 Apr 2022, 6:44 a.m.
Panel Version: 0.13064

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 19 Apr 2022, 6:44 a.m.
Last Modified: 19 Apr 2022, 6:44 a.m.
Panel version: Imported from Mendeliome panel version 0.13064

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, mild variant MONDO:0014057
OMIM
611065
Clinvar variants
Variants in PPM1K
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPM1K were changed from maple syrup urine disease, mild variant MONDO:0014057 to Maple syrup urine disease, mild variant MONDO:0014057

18 Feb 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPM1K were set to 29152456; 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).

2 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Sep 2022, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PPM1K were set to 29152456

2 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Sep 2022, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PPM1K was added gene: PPM1K was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: PPM1K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1K were set to 29152456 Phenotypes for gene: PPM1K were set to maple syrup urine disease, mild variant MONDO:0014057