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STRs in panel
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Inborn errors of metabolism

Gene: TARS2

Amber List (moderate evidence)

TARS2 (threonyl-tRNA synthetase 2, mitochondrial (putative))
EnsemblGeneIds (GRCh38): ENSG00000143374
EnsemblGeneIds (GRCh37): ENSG00000143374
OMIM: 612805, Gene2Phenotype
TARS2 is in 4 panels

2 reviews

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Combined oxidative phosphorylation deficiency 21, 615918
OMIM
612805
Clinvar variants
Variants in TARS2
Penetrance
None
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.
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TARS2 was added gene: TARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TARS2 was set to Unknown Publications for gene: TARS2 were set to 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. Phenotypes for gene: TARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 21, 615918