VARS1:Ensemblv115

valyl-tRNA synthetase 1
OMIM: 192150, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green VARS1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
  • OMIM #617802

Green VARS1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive
Tags
  • new gene name

Green VARS1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MIM#617802