Likely inborn error of metabolism - targeted testing not possible
Gene: TARS2
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 2:05 p.m. | Last Modified: 14 Mar 2022, 2:05 p.m.
Panel Version: 2.229
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Dec 2021, 12:57 p.m. | Last Modified: 14 Dec 2021, 12:57 p.m.
Panel Version: 2.208
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, 12:51 p.m. | Last Modified: 14 Dec 2021, 12:51 p.m.
Panel Version: 2.206
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: 2.205
Phenotypes
Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398
Publications
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.
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
Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag Q4_21_rating 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)
Gene: tars2 has been classified as Amber List (Moderate Evidence).
Tag Q4_21_rating tag was added to gene: TARS2.
Phenotypes for gene: TARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?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 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.
Sarah Leigh: Associated with relevant pheno
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