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  2. Mitochondrial liver disease, including transient infantile liver failure
  3. TFAM
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Mitochondrial liver disease, including transient infantile liver failure

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

2 reviews

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Comment on list classification: Single case report of homozygous missense variants in two siblings from a consanguineous kindred with IUGR, liver failure and death in early infancy. Agreed on specialist group teleconference 25.02.19 that an amber rating was appropriate pending further evidence.
Created: 25 Mar 2019, 7:16 a.m.
Created: 25 Mar 2019, 7:16 a.m.

Panel version: 0.5

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: TFAM; Suggested intial gene rating: Red; Information provided: Mode of inheritance, phenotype and publication.
Created: 1 Feb 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE), 617156

Publications

Created: 1 Feb 2019, 4:27 p.m.

Panel version: 0.3

Details

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

History Filter Activity

30 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TFAM were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE), 617156 to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156

25 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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

1 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TFAM was added gene: TFAM was added to Mitochondrial liver disease. Sources: NHS GMS 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