Likely inborn error of metabolism - targeted testing not possible
Gene: TFAM
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, supporting the Green rating of this gene on Mitochondrial panels (R352 and R63). As there was sufficient supporting evidence for the rating upgrade on those panels, the rating should also be updated to Green on this panel at the next GMS review. At least three unrelated cases reported in literature with supportive funtional studies including an animal model.Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 2.265
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM: 617156
Publications
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
Tag Q3_22_rating was removed from gene: TFAM.
Source NHS GMS was added to 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.
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