PanelApp
  1. Genes and Genomic Entities
  2. ADSL

ADSL

adenylosuccinate lyase
OMIM: 608222, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ADSL in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.13

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenylosuccinase deficiency, MIM# 103050

Green ADSL in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ADSL in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenylosuccinase deficiency MIM#103050

Green ADSL in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Adenylosuccinase deficiency MIM#103050

    Green ADSL 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
    • Adenylosuccinase deficiency, MIM# 103050

    Green ADSL 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
    • Adenylosuccinase deficiency, 103050 (3)

    Green ADSL in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Adenylosuccinase deficiency MIM#103050
    • disorder of purine metabolism

    Green ADSL in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Adenylosuccinase deficiency, MIM# 103050

    Green ADSL in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Adenylosuccinase deficiency, 103050 (3)

    Green ADSL in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Adenylosuccinase deficiency MIM#103050

    Green ADSL in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • disorder of purine metabolism
    • Adenylosuccinase deficiency MIM#103050