VARS2:Ensemblv115

valyl-tRNA synthetase 2, mitochondrial
OMIM: 612802, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red VARS2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, MIM# 615917

Green VARS2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert list
  • Literature
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, 615917
  • Epilepsy

Green VARS2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, 615917 (3)

Green VARS2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 20 MIM#615917