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Inborn errors of metabolism

Gene: KARS

Green List (high evidence)

KARS (lysyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 12 panels

5 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1
Created: 6 Sep 2019, 12:10 p.m. | Last Modified: 6 Sep 2019, 12:10 p.m.
Panel Version: 1.262

Eleanor Williams (Genomics England Curator)

Comment on publications: Added publications reported by Zornitza Stark
Created: 17 Jan 2019, 10:01 a.m.

Zornitza Stark (Australian Genomics)

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

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
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
Tags
new-gene-name
OMIM
601421
Clinvar variants
Variants in KARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: KARS.

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to KARS. Source London North GLH was added to KARS.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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