1. Panels
  2. Leukodystrophy - paediatric
  3. KARS
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - paediatric

Gene: KARS

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with or without deafness (LEPID), MIM#619147

Created: 3 Mar 2021, 2:11 a.m.
Last Modified: 3 Mar 2021, 2:11 a.m.
Panel version: 0.212

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Expert list
Created: 27 Nov 2020, 4:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
deafness and leukodystrophy

Publications

Created: 27 Nov 2020, 4:16 a.m.

Panel version: 0.208

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KARS were changed from Deafness, autosomal recessive 89, MIM# 613916; Leukodystrophy to Leukoencephalopathy with or without deafness (LEPID), MIM#619147

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kars has been classified as Green List (High Evidence).

27 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KARS were changed from deafness and leukodystrophy to Deafness, autosomal recessive 89, MIM# 613916; Leukodystrophy

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kars has been classified as Green List (High Evidence).

27 Nov 2020, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: KARS was added gene: KARS was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 30737337; 31116475; 30715177 Phenotypes for gene: KARS were set to deafness and leukodystrophy Review for gene: KARS was set to GREEN