TOMM7

translocase of outer mitochondrial membrane 7
OMIM: 607980, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TOMM7 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Garg-Mishra progeroid syndrome, OMIM:620601
    • Garg-Mishra progeroid syndrome, MONDO:0957953
    Green TOMM7 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.100
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Garg-Mishra progeroid syndrome, OMIM:620601
    • Garg-Mishra progeroid syndrome, MONDO:0957953
    Green TOMM7 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Garg-Mishra progeroid syndrome, OMIM:620601
    • Garg-Mishra progeroid syndrome, MONDO:0957953
    Amber TOMM7 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.158
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Garg-Mishra progeroid syndrome, OMIM:620601
    Green TOMM7 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Garg-Mishra progeroid syndrome, OMIM:620601
    • Garg-Mishra progeroid syndrome, MONDO:0957953
    Green TOMM7 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Garg-Mishra progeroid syndrome, OMIM:620601