Mitochondrial disorder with complex I deficiency
Gene: TIMMDC1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:34 a.m. | Last Modified: 1 Feb 2023, 11:34 a.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.Created: 30 Aug 2022, 9:28 a.m. | Last Modified: 30 Aug 2022, 9:28 a.m.
Panel Version: 1.18
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: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251
Publications
Variants in this GENE are reported as part of current diagnostic practice
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 3 unrelated families but all with the same deep intronic variant; functional studiesCreated: 10 May 2019, 9:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 31, 618251
Publications
Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 10:25 a.m.
Comment on list classification: Demoted from Green to Amber after discussion on the on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019.Created: 25 Feb 2019, 4:51 p.m.
Comment on publications: PMID: 28604674 - 3 unrelated cases with the same intronic variant and expression data.Created: 25 Feb 2019, 1:06 p.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: TIMMDC1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 31, 618251
Tag Q3_22_rating was removed from gene: TIMMDC1. Tag Q3_22_NHS_review was removed from gene: TIMMDC1.
Source Expert Review Green was added to TIMMDC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Publications for gene: TIMMDC1 were set to 28604674
Tag Q3_22_rating tag was added to gene: TIMMDC1. Tag Q3_22_NHS_review tag was added to gene: TIMMDC1.
Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Publications for gene: TIMMDC1 were set to 28604674
Publications for gene: TIMMDC1 were set to
gene: TIMMDC1 was added gene: TIMMDC1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251