Genomics England
GMS Panels
Panels
Genes and Entities

QARS

glutaminyl-tRNA synthetase
OMIM: 603727
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760, Intellectual disability
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760, Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760