AK2

adenylate kinase 2
OMIM: 103020, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green AK2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Reticular dysgenesis, MIM# 267500
    • MONDO:0009973
    Tags
    • treatable

    Green AK2 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Reticular dysgenesis, MIM# 267500
    • MONDO:0009973
    Tags
    • treatable

    Green AK2 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.213

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Reticular dysgenesis MIM# 267500
    • Combined immunodeficiency
    • neutropaenia
    • leukopaenia
    • lymphopaenia
    • agranulocytosis
    • deafness
    • MONDO:0009973

    Green AK2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Reticular dysgenesis MIM# 267500
    • Combined immunodeficiency
    • neutropaenia
    • leukopaenia
    • lymphopaenia
    • agranulocytosis
    • deafness
    • MONDO:0009973
    Tags
    • treatable

    Green AK2 in Severe Combined Immunodeficiency (absent T absent B cells)


    Level 2: Immunological disorders
    Version 1.8

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Reticular dysgenesis MIM# 267500
    • MONDO:0009973
    • Combined immunodeficiency
    • neutropaenia
    • leukopaenia
    • lymphopaenia
    • agranulocytosis
    • deafness
    Tags
    • treatable

    Green AK2 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
    • Reticular dysgenesis, 267500 (3)

    Red AK2 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Reticular dysgenesis, MIM# 267500
    • MONDO:0009973

    Green AK2 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • MONDO:0009973
    • Reticular dysgenesis, MIM# 267500

    Green AK2 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Reticular dysgenesis MIM# 267500

    Green AK2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Reticular dysgenesis, MIM# 267500
    • MONDO:0009973
    Tags
    • treatable
    • haematological

    Green AK2 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Reticular dysgenesis, 267500 (3)

    Green AK2 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.5

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • reticular dysgenesis MONDO:0009973
    • Disorders of purine metabolism