Mitochondrial disorders
Gene: KARSAdded new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1Created: 6 Sep 2019, 12:07 p.m. | Last Modified: 6 Sep 2019, 12:07 p.m.
Panel Version: 1.485
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.
Publications for gene: KARS were set to
Victorian Clinical Genetics Services was added to KARS. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KARS was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for KARS were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916
Mode of inheritance for KARS was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
KARS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
KARS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
KARS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen