1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. TFAM
STRs in panel
Prev Next
Regions in panel
Prev Next

Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: TFAM

Green List (high evidence)
TFAM (transcription factor A, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000108064
EnsemblGeneIds (GRCh37): ENSG00000108064
OMIM: 600438, Gene2Phenotype
TFAM is in 4 panels

1 review

Elena Tucker (Murdoch Children's Research Institute)

Green List (high evidence)

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 depletion
Created: 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

Created: 21 Feb 2022, 2:49 a.m.
Last Modified: 21 Feb 2022, 2:49 a.m.
Panel version: 0.283

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Perrault syndrome
  • primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss
OMIM
600438
Clinvar variants
Variants in TFAM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tfam has been classified as Green List (High Evidence).

21 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TFAM were changed from to Perrault syndrome; primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss

21 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TFAM were set to PMID: 34647195

21 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tfam has been classified as Green List (High Evidence).

21 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance

Elena Tucker (Murdoch Children's Research Institute)

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