PanelApp (test)
  1. Genes and Genomic Entities
  2. PPM1K:Ensemblv90

PPM1K:Ensemblv90

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber PPM1K in Mendeliome


Version 1.3802

2 reviews 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 1.508

2 reviews 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 1.138

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

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

    Amber PPM1K in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

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