PanelApp
  1. Genes and Genomic Entities
  2. ASL

ASL

argininosuccinate lyase
OMIM: 608310, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red ASL in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Argininosuccinic aciduria, MIM#207900

Green ASL in Mendeliome


Version 1.3512

2 reviews 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 0.594

1 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 1.410

1 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 0.110

0 reviews 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 0.81

2 reviews 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

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Argininosuccinic aciduria

Green ASL in Liver Failure_Paediatric


Level 2: Gastroenterological disorders
Version 1.30

Component of the following Super Panels:

  • Liverome Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert list
    • NHS GMS
    • Genomics England PanelApp
    • Expert Review Green
    • Expert Review Green
    • Expert Review Green
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Argininosuccinic aciduria 207900
    Tags
    • treatable

    Green ASL in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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

    		•  2 reviews 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 1.465

    		1 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 2.14

    		1 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 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • argininosuccinic aciduria MONDO:0008815

    Green ASL in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews 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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Argininosuccinic aciduria MIM#207900