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Mitochondrial disorders v3.6 TARS2 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: TARS2.
Mitochondrial disorders v3.6 TARS2 Achchuthan Shanmugasundram commented on gene: TARS2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Mitochondrial disorders v3.5 TARS2 Achchuthan Shanmugasundram 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)
Mitochondrial disorders v3.2 TARS2 Achchuthan Shanmugasundram Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21, OMIM:615918 to Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398
Mitochondrial disorders v3.1 TARS2 Achchuthan Shanmugasundram reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21, MIM# 615918, MONDO:0014398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.153 TARS2 Arina Puzriakova 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
Mitochondrial disorders v2.73 TARS2 Sarah Leigh Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21MONDO:0014398 to Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398
Mitochondrial disorders v2.72 TARS2 Sarah Leigh Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21MONDO:0014398 to Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21MONDO:0014398
Mitochondrial disorders v2.72 TARS2 Sarah Leigh Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 OMIM:615918 to Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21MONDO:0014398
Mitochondrial disorders v2.71 TARS2 Sarah Leigh edited their review of gene: TARS2: Added comment: 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.; Changed rating: GREEN
Mitochondrial disorders v2.71 TARS2 Sarah Leigh Tag Q4_21_rating tag was added to gene: TARS2.
Mitochondrial disorders v2.71 TARS2 Sarah Leigh Classified gene: TARS2 as Amber List (moderate evidence)
Mitochondrial disorders v2.71 TARS2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v2.71 TARS2 Sarah Leigh Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.70 TARS2 Sarah Leigh 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
Mitochondrial disorders v2.69 TARS2 Sarah Leigh Added comment: 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.
Mitochondrial disorders v2.69 TARS2 Sarah Leigh 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.
Mitochondrial disorders v2.63 TARS2 Zornitza Stark reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.469 TARS2 Sarah Leigh Mode of inheritance for gene: TARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal