Likely inborn error of metabolism - targeted testing not possible
Gene: TIMMDC1
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, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R353 and R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. At least five individuals reported, including three unrelated patients with the same homozygous intronic variant and two brothers with different compound heterozygous variants in this gene (PMIDs: 28604674; 33278652).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 complex I deficiency, nuclear type 31, OMIM:618251
Publications
Relevant Amber review from expert on panel - Mitochondrial disorder with complex I deficiency (Version 1.0)Created: 18 Nov 2019, 4:06 p.m. | Last Modified: 18 Nov 2019, 4:06 p.m.
Panel Version: 1.406
Tag Q3_22_rating was removed from gene: TIMMDC1.
Source NHS GMS was added to TIMMDC1. Source Expert Review Green was added to TIMMDC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: TIMMDC1 were set to 28604674
Phenotypes for gene: TIMMDC1 were changed from Mitochondrial complex I deficiency, nuclear type 31, 618251 to Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251
Tag Q3_22_rating tag was added to gene: TIMMDC1.
gene: TIMMDC1 was added gene: TIMMDC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMMDC1 were set to 28604674 Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251