TOMM70

translocase of outer mitochondrial membrane 70
OMIM: 606081, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TOMM70 in Mendeliome


Version 1.3802

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial disease, MONDO:0044970, TOMM70-related
  • Leukodystrophy, MONDO:0019046, TOMM70-related

Amber TOMM70 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1299

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, TOMM70-related

    Amber TOMM70 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.334

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, MONDO:0019046, TOMM70-related