TOMM7

translocase of outer mitochondrial membrane 7
OMIM: 607980, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber TOMM7 in Mendeliome


Version 1.4601

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Garg-Mishra progeroid syndrome, MIM# 620601

Amber TOMM7 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.421

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Garg-Mishra progeroid syndrome, MIM# 620601

Amber TOMM7 in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.16

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Garg-Mishra progeroid syndrome, MIM# 620601

    Amber TOMM7 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.251

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • Garg-Mishra progeroid syndrome, MIM# 620601

    Amber TOMM7 in Fetal anomalies


    Version 1.544

    4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • Garg-Mishra progeroid syndrome, MIM# 620601