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  3. VARS2
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Genetic Epilepsy

Gene: VARS2

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

2 reviews

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, 9:04 a.m. | Last Modified: 5 Oct 2021, 9:04 a.m.
Panel Version: 0.9324

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 20; OMIM #615917

Publications

Created: 5 Oct 2021, 9:04 a.m.
Last Modified: 5 Oct 2021, 9:04 a.m.
Panel version: Imported from Mendeliome panel version 0.9324

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene associated with mitochondrial disorder. Heterogeneous clinical features reported including seizures, epilepsy, encephalopathy, microcephaly, global developmental delay, hypotonia, ataxia, dystonic movements, limb spasticity, hypertrophic cardiomyopathy, hyperlactaemia and MRI-B abnormalities.
Sources: Expert list, Literature
Created: 5 Oct 2021, 7:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 20, 615917; Epilepsy

Publications

Created: 5 Oct 2021, 7:27 a.m.

Panel version: 0.1259

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, 615917
  • Epilepsy
OMIM
612802
Clinvar variants
Variants in VARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vars2 has been classified as Green List (High Evidence).

5 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vars2 has been classified as Green List (High Evidence).

5 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: VARS2 was added gene: VARS2 was added to Genetic Epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VARS2 were set to 27502409; 29137650; 31064326; 31623496 Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917; Epilepsy Review for gene: VARS2 was set to GREEN