Mitochondrial disease
Gene: KARS
KARS (lysyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple unrelated families reported, some with isolated deafness, isolated leukoencephalopathy, or both.Created: 3 Mar 2021, 2:15 a.m. | Last Modified: 3 Mar 2021, 2:15 a.m.
Panel Version: 0.6527
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 601421
- Clinvar variants
- Variants in KARS
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Predominantly Antibody Deficiency
- Deafness_Isolated
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Hereditary Neuropathy - complex
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KARS was added gene: KARS was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: KARS was set to Unknown