Genomics England

ASL

argininosuccinate lyase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Argininosuccinic aciduria, OMIM:207900, argininosuccinic aciduria, MONDO:0008815, Ataxia, HP:0001251
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARGININOSUCCINATE LYASE DEFICIENCY 207900
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Argininosuccinic aciduria, OMIM:207900, argininosuccinic aciduria, MONDO:0008815, tremor, HP:0001337, Dystonia, HP:0001332
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 Signed-off version 9.56	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Argininosuccinic aciduria, OMIM:207900, argininosuccinic aciduria, MONDO:0008815