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Intellectual disability syndromic and non-syndromic

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple patients reported with ID, encephalopathy as part of this mitochondrial disorder.
Created: 4 Dec 2019, 10:59 p.m. | Last Modified: 4 Dec 2019, 10:59 p.m.
Panel Version: 0.369

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 20; OMIM #615917

Publications

Details

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

History Filter Activity

14 Jan 2020, 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).

4 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from VARS2. Source Expert list was added to VARS2. Mode of inheritance for gene VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917 Publications for gene VARS2 were changed from PubMed: 24827421; 25058219; 29137650; 29314548; 31064326 to PubMed: 24827421; 25058219; 29137650; 29314548; 31064326

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VARS2 was added gene: VARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VARS2 was set to Unknown