ASL

argininosuccinate lyase
OMIM: 608310, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red ASL in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Argininosuccinic aciduria, MIM#207900
Green ASL in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Argininosuccinic aciduria MIM#207900 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green ASL in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green ASL in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Argininosuccinic aciduria, MIM#207900 Tags treatable
Green ASL in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Argininosuccinic aciduria, 207900 (3)
Green ASL in Hair disorders Level 2: Dermatological disorders Version 0.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Expert list Victorian Clinical Genetics Services Phenotypes Argininosuccinic aciduria MIM#207900 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green ASL in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Argininosuccinic aciduria
Green ASL in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Phenotypes Argininosuccinic aciduria MIM#207900 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green ASL in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Argininosuccinic aciduria 207900 Tags treatable
Red ASL in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Argininosuccinic aciduria, MIM#207900
Green ASL in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Argininosuccinic aciduria, 207900 (3)
Green ASL in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes argininosuccinic aciduria MONDO:0008815
Green ASL in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Argininosuccinic aciduria, MIM#207900 Tags treatable metabolic
Green ASL in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Argininosuccinic aciduria, 207900 (3)