TFAM

transcription factor A, mitochondrial
OMIM: 600438, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber TFAM in Mitochondrial liver disease, including transient infantile liver failure


Level 2: Mitochondrial
Version 1.14
Latest signed off version: v1.9 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156
Green TFAM in Mitochondrial DNA maintenance disorder


Level 2: Mitochondrial
Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156
Green TFAM in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
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
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156
    Green TFAM in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156
    Green TFAM in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    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
    Phenotypes
    • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156