PanelApp (stage)
  1. Genes and Genomic Entities
  2. PPM1K

PPM1K

protein phosphatase, Mg2+/Mn2+ dependent 1K
OMIM: 611065, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PPM1K in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, mild variant, MIM#615135

Amber PPM1K in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Maple syrup urine disease, mild variant, MIM#615135

Amber PPM1K in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.128

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Maple syrup urine disease, mild variant MONDO:0014057