ASL

argininosuccinate lyase
OMIM: 608310, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ASL in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Phenotypes Argininosuccinic aciduria 207900
Amber ASL in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 Ataxia, HP:0001251 Tags Q4_23_promote_green Q4_23_NHS_review
Green ASL in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) Argininosuccinic aciduria
Green ASL in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815
Red ASL in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ARGININOSUCCINATE LYASE DEFICIENCY
Green ASL in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININOSUCCINATE LYASE DEFICIENCY 207900
Amber ASL in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Literature Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 seizure, HP:0001250 Tags Q4_23_promote_green Q4_23_NHS_review
Green ASL in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815
Amber ASL in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 tremor, HP:0001337 Dystonia, HP:0001332 Tags Q4_23_promote_green Q4_23_NHS_review
Green ASL in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Argininosuccinic aciduria, 207900