PanelApp (stage)
  1. Genes and Genomic Entities
  2. TFAM

TFAM

transcription factor A, mitochondrial
OMIM: 600438, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TFAM in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
  • Perrault syndrome

Green TFAM in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156

    Green TFAM in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Perrault syndrome
    • primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss

    Amber TFAM in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156