PTPMT1

protein tyrosine phosphatase, mitochondrial 1
OMIM: 609538, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PTPMT1 in Mendeliome


Version 1.3490

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199

Green PTPMT1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199

    Green PTPMT1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199