Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: TFAM
PMID: 32399598. Homozygous missense variant predicted pathogenic in patient presenting with Perrault syndrome and intellectual disability
PMID: 34647195. Same homozygous missense variant in two sisters with premature ovarian insufficiency +/- seizures and their brother with seizures + intellectual disability. Patient fibroblasts have mtDNA depletion
PMID: 34647195. Zebrafish model with in-frame deletion has ovarian dysgenesis and mtDNA depletionCreated: 21 Feb 2022, 2:49 a.m. | Last Modified: 21 Feb 2022, 2:49 a.m.
Panel Version: 0.283
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome; primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss
Publications
Gene: tfam has been classified as Green List (High Evidence).
Phenotypes for gene: TFAM were changed from to Perrault syndrome; primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss
Publications for gene: TFAM were set to PMID: 34647195
Gene: tfam has been classified as Green List (High Evidence).
gene: TFAM was added gene: TFAM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFAM were set to PMID: 34647195 Penetrance for gene: TFAM were set to Complete