Genomics England

ASL

argininosuccinate lyase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Argininosuccinic aciduria, OMIM:207900, argininosuccinic aciduria, MONDO:0008815, Ataxia, HP:0001251
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Argininosuccinic aciduria, OMIM:207900, argininosuccinic aciduria, MONDO:0008815, tremor, HP:0001337, Dystonia, HP:0001332
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARGININOSUCCINATE LYASE DEFICIENCY 207900
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 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Argininosuccinic aciduria, OMIM:207900, argininosuccinic aciduria, MONDO:0008815, seizure, HP:0001250
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Argininosuccinic aciduria, OMIM:207900, argininosuccinic aciduria, MONDO:0008815
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Argininosuccinic aciduria, OMIM:207900, argininosuccinic aciduria, MONDO:0008815