Molecular autopsy
Gene: KARSAdded new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1Created: 6 Sep 2019, 12:10 p.m. | Last Modified: 6 Sep 2019, 12:10 p.m.
Panel Version: 0.99
Comment on publications: Added publications added by Added publications reported by Zornitza Stark on Mitochondrial disorders panel on 21-12-2018Created: 23 Jan 2019, 11:32 a.m.
Tag new-gene-name tag was added to gene: KARS.
Publications for gene: KARS were set to 27604308
Added phenotypes Deafness, autosomal recessive 89, 613916; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 for gene: KARS
Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: KARS
gene: KARS was added gene: KARS was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 27604308 Phenotypes for gene: KARS were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only))