PTPMT1

protein tyrosine phosphatase, mitochondrial 1
OMIM: 609538, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PTPMT1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • inborn mitochondrial metabolism disorder MONDO:0004069

Green PTPMT1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.970

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • inborn mitochondrial metabolism disorder MONDO:0004069

    Green PTPMT1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • inborn mitochondrial metabolism disorder MONDO:0004069