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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 9:04 a.m. | Last Modified: 21 Feb 2022, 9:04 a.m.
Panel Version: 0.11036
One consanguineous family segregates a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation.
Sources: NHS GMS
Created: 20 Mar 2020, 4:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156; Perrault syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
  • Perrault syndrome
OMIM
600438
Clinvar variants
Variants in TFAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TFAM were changed from Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156; Perrault syndrome

21 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TFAM were set to 27448789; 29021295; 9500544

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).

12 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tfam has been classified as Amber List (Moderate Evidence).

12 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tfam has been classified as Amber List (Moderate Evidence).

20 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TFAM was added gene: TFAM was added to Mendeliome. Sources: NHS GMS Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFAM were set to 27448789; 29021295; 9500544 Phenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 Review for gene: TFAM was set to AMBER