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STRs in panel
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Inborn errors of metabolism

Gene: TFAM

Amber List (moderate evidence)

TFAM (transcription factor A, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000108064
EnsemblGeneIds (GRCh37): ENSG00000108064
OMIM: 600438, Gene2Phenotype
TFAM is in 5 panels

1 review

Catherine Snow (Genomics England)

Relevant Amber review on Mitochondrial liver disease (Version 1.0)
Created: 18 Nov 2019, 4:04 p.m. | Last Modified: 18 Nov 2019, 4:04 p.m.
Panel Version: 1.406

Details

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

History Filter Activity

18 Nov 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: TFAM was added gene: TFAM was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFAM were set to 27448789 Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156