Likely inborn error of metabolism - targeted testing not possible
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: 1.262
Comment on publications: Added publications reported by Zornitza StarkCreated: 17 Jan 2019, 10:01 a.m.
At least 6 patients reported with a childhood-onset disorder, characterised by leucoencephalopathy, microcephaly, intellectual disability, seizures. Lactic acidosis in one. Brainstem and spinal cord calcifications in one. Postulated to be mitochondrial.Created: 21 Dec 2018, 4:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: For both disorders.Created: 2 Mar 2016, 12:46 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a G2P both DD and IF gene for Charcot-Marie-Tooth disease, recessive intermediate, B and Deafness, autosomal recessive 89. There seems to be more evidence for the association with deafness (and is a green gene on the congenital deafness panel) as in OMIM there is a ? prior to ?Charcot-Marie-Tooth disease, recessive intermediate, B and we have gained mixed reviews for this gene on the Charcot-Marie-Tooth disease panel.Created: 2 Mar 2016, 12:46 p.m.
Tag new-gene-name tag was added to gene: KARS.
Source NHS GMS was added to KARS. Source London North GLH was added to KARS.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes 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)); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 for gene: KARS Publications for gene KARS were changed from to 27604308
gene: KARS was added gene: KARS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, 613916; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641