QARS

glutaminyl-tRNA synthetase
OMIM: 603727
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760, Intellectual disability