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Possible mitochondrial disorder - nuclear genes

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 20, 615917

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 15 Mar 2016, 8:31 a.m.
Comment on list classification: Carl Fratter also confirmed that this gene should be green.
Created: 15 Mar 2016, 8:30 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, 615917
OMIM
612802
Clinvar variants
Variants in VARS2
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: VARS2 was added gene: VARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917