QARS

glutaminyl-tRNA synthetase
OMIM: 603727
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760, Intellectual disability