Genomics England

isoleucyl-tRNA synthetase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093, Microcephaly