Possible mitochondrial disorder - nuclear genes

Gene: KARS

Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1

Created: 6 Sep 2019, 12:09 p.m. | Last Modified: 6 Sep 2019, 12:09 p.m.

Panel Version: 1.2

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.

Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89 613916

Comment on publications: Added publications reported by Zornitza Stark

Created: 17 Jan 2019, 10:01 a.m.

Green List (high evidence)

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

• 28887846, 25330800, 29615062, 30252186, 28496994

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.

Green List (high evidence)