ADK

adenosine kinase
OMIM: 102750, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ADK in Cholestasis


Level 2: Gastroenterological disorders
Version 1.8

Component of the following Super Panels:

  • Liverome Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300

    Green ADK in Hyperinsulinism


    Level 2: Endocrine disorders
    Version 1.49

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Adenosine kinase deficiency MONDO:0100255

    Green ADK in Mendeliome


    Version 1.4216

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300

    Green ADK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300

    Green ADK in Additional findings_Paediatric


    Level 2: Screening
    Version 0.280

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hypermethioninemia due to adenosine kinase deficiency

    Green ADK in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.139

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • adenosine kinase deficiency MONDO:0100255

    Red ADK in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.147

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300