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2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss 1

Mitochondrial disorders
Gene: TARS2

TARS2 (threonyl-tRNA synthetase 2, mitochondrial (putative))
EnsemblGeneIds (GRCh38): ENSG00000143374
EnsemblGeneIds (GRCh37): ENSG00000143374
OMIM: 612805, Gene2Phenotype
TARS2 is in 7 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.

Panel Version: 3.6

Comment on classification of this gene: I agree with the previous reviews from others that TARS2 should be promoted from amber to GREEN rating. The implication of this gene has been identified from biallelic variants from at least seven unrelated patients from multiple ethnicities and supported by functional studies.
Created: 12 Dec 2022, 11:02 p.m. | Last Modified: 12 Dec 2022, 11:02 p.m.

Panel Version: 3.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 21, MIM# 615918, MONDO:0014398

Publications

34508595

Created: 12 Dec 2022, 11:02 p.m.
Last Modified: 12 Dec 2022, 11:02 p.m.
Panel version: 3.6

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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.
Created: 14 Dec 2021, 11:30 a.m. | Last Modified: 14 Dec 2021, 11:30 a.m.

Panel Version: 2.71

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 14 Dec 2021, 11:19 a.m. | Last Modified: 14 Dec 2021, 11:19 a.m.

Panel Version: 2.71

Comment on publications: PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither.
Created: 14 Dec 2021, 11:15 a.m. | Last Modified: 14 Dec 2021, 11:15 a.m.

Panel Version: 2.69

Created: 14 Dec 2021, 11:15 a.m.
Last Modified: 14 Dec 2021, 11:15 a.m.
Panel version: 2.71

Zornitza Stark (Australian Genomics)

Green List (high evidence)

8 individuals from 7 unrelated families are reported in the literature with a heterogenous phenotype characterised by either early-onset illness within the first months, of severe hypotonia, failure to thrive, epilepsy and early death, or onset after six months with a milder course and longer survival. Other phenotypic features include developmental delay, MRI-B abnormalities and more rarely dystonia, regression, hyperhidrosis and hearing impairment.
Created: 4 Dec 2021, 7:39 a.m. | Last Modified: 4 Dec 2021, 7:39 a.m.

Panel Version: 2.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 21 - 615918

Publications

Created: 4 Dec 2021, 7:39 a.m.
Last Modified: 4 Dec 2021, 7:39 a.m.
Panel version: 2.63

Ellen McDonagh (Genomics England Curator)

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.

Created: 22 Apr 2016, 7:31 a.m.

Panel version: 0.559

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Victorian Clinical Genetics Services
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398

OMIM

612805

Clinvar variants

Variants in TARS2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_21_rating was removed from gene: TARS2.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to TARS2. Source Expert Review Green was added to TARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

12 Dec 2022, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21, OMIM:615918 to Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398

30 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

14 Dec 2021, Gel status: 2