Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Likely inborn error of metabolism - targeted testing not possible v1.47 YARS2 Ivone Leong Source NHS GMS was added to YARS2.
Source London North GLH was added to YARS2.
Likely inborn error of metabolism - targeted testing not possible v0.4 YARS2 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Publications for gene YARS2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 YARS2 Ellen McDonagh gene: YARS2 was added
gene: YARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561