Deafness_Isolated
Gene: KARS

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

multiple unrelated families. some functional evidence. Limited by ClinGen
Created: 31 Dec 2019, 1:26 a.m. | Last Modified: 31 Dec 2019, 1:26 a.m.

Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive sensorineural hearing loss

Publications

Created: 31 Dec 2019, 1:26 a.m.
Last Modified: 31 Dec 2019, 1:26 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.74

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship

Phenotypes

Deafness, autosomal recessive 89, MIM# 613916

OMIM

601421

Clinvar variants

Variants in KARS

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Oct 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).

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KARS was added gene: KARS was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 14975237; 23768514 Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, MIM# 613916

Deafness_Isolated Gene: KARS