1. Genes and Genomic Entities
  2. TOMM70

TOMM70

translocase of outer mitochondrial membrane 70
OMIM: 606081, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber TOMM70 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Severe anaemia, lactic acidosis
    • developmental delay
    • white matter abnormalities
    Amber TOMM70 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Severe anaemia, lactic acidosis
    • developmental delay
    • white matter abnormalities