Genomics England
GMS Panels
Panels
Genes and Entities

VARS

valyl-tRNA synthetase
OMIM: 192150
PanelMode of inheritanceDetails
2 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NDMSCA, Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802, # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY