1. Genes and Genomic Entities
  2. ADK

ADK

adenosine kinase
OMIM: 102750, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ADK in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency 614300
Tags
  • treatable
Green ADK in Cholestasis


Level 2: Gastrohepatology
Version 4.1
Latest signed off version: v4.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency, OMIM:614300, MONDO:0013676
Red ADK in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Green ADK in Intellectual disability


    Level 2: Developmental disorders
    Version 10.1
    Latest signed off version: v10.0 (6 May 2026)

    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
    • Hypermethioninemia due to adenosine kinase deficiency 614300