Possible mitochondrial disorder - nuclear genes

Gene: TARS2

Green List (high evidence)

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

Green List (high evidence)

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

• 33153448
• 24827421
• 34508595

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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

• 33153448
• 24827421
• 34508595

I don't know

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 studies

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Combined oxidative phosphorylation deficiency 21, 615918

Publications

• 24827421
• 26811336

Green List (high evidence)

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.

Green List (high evidence)