Genomics England

QARS

glutaminyl-tRNA synthetase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	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 9.0	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 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760, Intellectual disability
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 10.0	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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760