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Likely inborn error of metabolism - targeted testing not possible v2.290 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
Likely inborn error of metabolism - targeted testing not possible v2.253 TARS2 Arina Puzriakova Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.229 TARS2 Ivone Leong Tag Q4_21_rating was removed from gene: TARS2.
Likely inborn error of metabolism - targeted testing not possible v2.229 TARS2 Sarah Leigh commented on gene: TARS2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism - targeted testing not possible v2.229 TARS2 Ivone Leong Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.208 TARS2 Sarah Leigh Classified gene: TARS2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.208 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.
Likely inborn error of metabolism - targeted testing not possible v2.208 TARS2 Sarah Leigh Gene: tars2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.207 TARS2 Sarah Leigh Tag Q4_21_rating tag was added to gene: TARS2.
Likely inborn error of metabolism - targeted testing not possible v2.207 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; combined oxidative phosphorylation defect type 21 MONDO:0014398
Likely inborn error of metabolism - targeted testing not possible v2.206 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.
Likely inborn error of metabolism - targeted testing not possible v2.206 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.
Likely inborn error of metabolism - targeted testing not possible v2.205 TARS2 Sarah Leigh reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 OMIM:615918, combined oxidative phosphorylation defect type 21 MONDO:0014398; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v0.4 TARS2 Ellen McDonagh 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