AK2

adenylate kinase 2
OMIM: 103020, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green AK2 in COVID-19 research


Level 2: Viral research
Version 1.130

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • SCID v1.6
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • SCID v1.6
Phenotypes
  • Reticular dysgenesis, AK2 deficiency
  • Granulocytopenia and deafness
  • Reticular dysgenesis, 267500
  • Reticular dysgenesis with sensorineural deafness
  • Reticular Dysgenesis AK2 (SCID)
  • Immunodeficiencies affecting cellular and humoral immunity

Green AK2 in Primary immunodeficiency


Version 2.572
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • SCID v1.6
Phenotypes
  • Reticular dysgenesis with sensorineural deafness
  • Reticular dysgenesis, 267500
  • Reticular dysgenesis, AK2 deficiency
  • Reticular Dysgenesis AK2 (SCID)
  • Granulocytopenia and deafness
  • Immunodeficiencies affecting cellular and humoral immunity

Green AK2 in Cytopenia - NOT Fanconi anaemia


Version 1.70
Latest signed off version: v1.29 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Reticular dysgenesis, 267500

Red AK2 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETICULAR DYSGENESIS

Green AK2 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RETICULAR DYSGENESIS 267500

    Amber AK2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • NA

    Red AK2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert list
    Phenotypes
    • Reticular dysgenesis 267500

    Green AK2 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Reticular dysgenesis, 267500