Deafness_IsolatedAndComplex
Gene: KARS

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

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

New HGNC approved name is KARS1(HGNC:6215)
Created: 6 May 2024, 6:15 a.m. | Last Modified: 6 May 2024, 6:15 a.m.

Panel Version: 1.180

Created: 6 May 2024, 6:15 a.m.
Last Modified: 6 May 2024, 6:15 a.m.
Panel version: 1.180

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196

Created: 3 Mar 2021, 2:17 a.m.
Last Modified: 3 Mar 2021, 2:17 a.m.
Panel version: 1.52

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: 0.74

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Deafness, autosomal recessive 89, MIM# 613916

Tags

new gene name

OMIM

601421

Clinvar variants

Variants in KARS

Penetrance

None

Publications

Panels with this gene