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| Aminoacidopathy v2.0 | PPM1K | Gene migrated from ENSG00000163644 to ENSG00000163644 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.138 | PPM1K | Zornitza Stark edited their review of gene: PPM1K: Added comment: Additional individual reported in PMID 40047138 noted. However, variant is homozygous missense and thus a VOUS.; Changed rating: AMBER; Changed publications: 23086801, 40047138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.138 | PPM1K |
Andrew Coventry changed review comment from: New literature identifies 8 yo male child presenting with mild dysmorphic features, delayed speech, relative microcephaly, and overweight, all considered familial phenotypic traits. Laboratory findings revealed mildly elevated plasma branched-chain amino acids, mild lactic acidemia, and a slight increase in urinary keto acids. Testing identified homozygous missense variant in PPM1K - c.925A>G p.(Ile309Val). No functional studies conducted. In silico predicts residual to have destabilising impact on protein. 3 individuals now reported in literature with mild findings related to MSUD BCAA levels. Adequate evidence to include in panel?; to: New literature identifies 8 yo male child presenting with mild dysmorphic features, delayed speech, relative microcephaly, and overweight, all considered familial phenotypic traits. Laboratory findings revealed mildly elevated plasma branched-chain amino acids, mild lactic acidemia, and a slight increase in urinary keto acids. Testing identified homozygous missense variant in PPM1K - c.925A>G p.(Ile309Val). No functional studies conducted. In silico predicts AA substitution to have destabilising impact on protein. 3 individuals now reported in literature with mild findings related to MSUD BCAA levels. Adequate evidence to include in panel? |
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| Aminoacidopathy v1.138 | PPM1K | Andrew Coventry reviewed gene: PPM1K: Rating: AMBER; Mode of pathogenicity: None; Publications: 36706222, 23086801, 40047138; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.4 | PPM1K | Zornitza Stark Phenotypes for gene: PPM1K were changed from maple syrup urine disease, mild variant MONDO:0014057 to Maple syrup urine disease, mild variant MONDO:0014057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.3 | PPM1K | Zornitza Stark Publications for gene: PPM1K were set to 29152456; 23086801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.2 | PPM1K | Zornitza Stark Classified gene: PPM1K as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.2 | PPM1K | Zornitza Stark Gene: ppm1k has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.1 | PPM1K | Suliman Khan reviewed gene: PPM1K: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36706222; Phenotypes: Maple syrup urine disease (MSUD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.3 | PPM1K | Bryony Thompson Marked gene: PPM1K as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.3 | PPM1K | Bryony Thompson Gene: ppm1k has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.3 | PPM1K | Bryony Thompson Publications for gene: PPM1K were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.2 | PPM1K | Bryony Thompson Classified gene: PPM1K as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.2 | PPM1K | Bryony Thompson Gene: ppm1k has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.0 | PPM1K |
Bryony Thompson 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 |
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