Mitochondrial disease
Gene: QARSEnsemblGeneIds (GRCh38): ENSG00000172053
EnsemblGeneIds (GRCh37): ENSG00000172053
OMIM: 603727, Gene2Phenotype
QARS is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.
Sources: NHS GMSCreated: 23 Mar 2020, 1:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
- OMIM
- 603727
- Clinvar variants
- Variants in QARS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: qars has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: qars has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: QARS was added gene: QARS was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QARS were set to 28620870; 25471517; 25432320; 25041233; 24656866; 32042906 Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Review for gene: QARS was set to GREEN