Mitochondrial DNA maintenance disorder
Gene: TFAM
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:55 p.m. | Last Modified: 1 Feb 2023, 12:55 p.m.
Panel Version: 2.3
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. At least three unrelated cases reported in literature with supportive funtional studies including an animal model.Created: 30 Aug 2022, 9:28 a.m. | Last Modified: 30 Aug 2022, 9:28 a.m.
Panel Version: 1.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM: 617156
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: 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, 7:25 a.m.
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: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Publications
Tag Q3_22_rating was removed from gene: TFAM. Tag Q3_22_NHS_review was removed from gene: TFAM.
Source Expert Review Green was added to TFAM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: TFAM were set to 27448789
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
Tag Q3_22_rating tag was added to gene: TFAM. Tag Q3_22_NHS_review tag was added to gene: TFAM.
Gene: tfam has been classified as Amber List (Moderate Evidence).
gene: TFAM was added gene: TFAM was added to Mitochondrial DNA maintenance disorder. 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