TFAM:Ensemblv115

transcription factor A, mitochondrial
OMIM: 600438, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TFAM in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.0

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

Amber TFAM in Liver Failure_Paediatric


Level 2: Gastroenterological disorders
Version 2.0

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