PanelApp
  1. Genes and Genomic Entities
  2. AK1

AK1

adenylate kinase 1
OMIM: 103000, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green AK1 in Mendeliome


Version 1.3519

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631

Red AK1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hemolytic anemia due to adenylate kinase deficiency

Green AK1 in Red cell disorders


Level 2: Haematological disorders
Version 1.35

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631

Red AK1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hemolytic anemia due to adenylate kinase deficiency

Green AK1 in Nucleotide metabolism disorders


Level 2: Metabolic disorders
Version 0.8

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • hemolytic anemia due to adenylate kinase deficiency MONDO:0012967
    • Disorders of purine metabolism