Possible mitochondrial disorder - nuclear genes
Gene: TARS2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 1:12 p.m. | Last Modified: 1 Feb 2023, 1:12 p.m.
Panel Version: 2.5
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, 9:24 a.m. | Last Modified: 30 Aug 2022, 9:24 a.m.
Panel Version: 1.102
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 21, OMIM: 615918
Publications
Variants in this GENE are reported as part of current diagnostic practice
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported in at least 7 unrelated cases with a varied phenotype, including encephalomyopathy, epilepsy, dystonia, hyperhidrosis and severe hearing impairment. Supportive functional studies were also presented PMID: 34508595.Created: 14 Dec 2021, 12:49 p.m. | Last Modified: 14 Dec 2021, 12:49 p.m.
Panel Version: 1.60
Phenotypes
Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398
Publications
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (2 sibs) with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 21, 615918
Publications
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.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 21, 615918
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 4:49 p.m.
Comment on list classification: Two affected siblings reported as compound heterozygous.Created: 22 Apr 2016, 7:46 a.m.
Comment on list classification: Promoted from red to amber.Created: 22 Apr 2016, 7:31 a.m.
Tag Q3_22_rating was removed from gene: TARS2. Tag Q3_22_NHS_review was removed from gene: TARS2.
Source Expert Review Green was added to TARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398 to Combined oxidative phosphorylation deficiency 21, OMIM:615918
Tag Q3_22_NHS_review tag was added to gene: TARS2.
Tag Q3_22_rating tag was added to gene: TARS2.
Phenotypes for gene: TARS2 were changed from ?Combined oxidative phosphorylation deficiency 21, 615918 to Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398
Publications for gene: TARS2 were set to
Gene: tars2 has been classified as Amber List (Moderate Evidence).
gene: TARS2 was added gene: TARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TARS2 were set to ?Combined oxidative phosphorylation deficiency 21, 615918