AK1

adenylate kinase 1
OMIM: 103000, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green AK1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to adenylate kinase deficiency, 612631
Green AK1 in Rare anaemia


Level 2: Haematology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • 612631 Hemolytic anemia due to adenylate kinase deficiency
  • Hemolytic anemia due to adenylate kinase deficiency, 612631
Red AK1 in Intellectual disability


Level 2: Developmental disorders
Version 9.279
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hemolytic anemia due to adenylate kinase deficiency, 612631