Mitochondrial disease
Gene: VARS2

VARS2 (valyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000137411
EnsemblGeneIds (GRCh37): ENSG00000137411
OMIM: 612802, Gene2Phenotype
VARS2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 individuals reported. Heterogeneous clinical features including seizures, epilepsy, encephalopathy, microcephaly, global developmental delay/ID, hypotonia, ataxia, dystonic movements, limb spasticity, hypertrophic cardiomyopathy, hyperlactaemia and MRI-B abnormalities.
Created: 5 Oct 2021, 9:06 a.m. | Last Modified: 5 Oct 2021, 9:06 a.m.

Panel Version: 0.648

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 20; OMIM #615917

Publications

Created: 5 Oct 2021, 9:06 a.m.
Last Modified: 5 Oct 2021, 9:06 a.m.
Panel version: 0.648

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Combined oxidative phosphorylation deficiency 20
OMIM #615917

OMIM

612802

Clinvar variants

Variants in VARS2

Penetrance

None

Publications

Panels with this gene