This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
Gene: KARS
KARS (lysyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 13 panels
1 review
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1Created: 6 Sep 2019, 12:13 p.m. | Last Modified: 6 Sep 2019, 12:13 p.m.
Panel Version: 0.4
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Tags
- OMIM
- 601421
- Clinvar variants
- Variants in KARS
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Hereditary neuropathy or pain disorder
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Hereditary neuropathy
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.
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)KARS was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)KARS was created by Sarah Leigh