Red cell disorders
Gene: AK1
Adenylate kinase (AK) deficiency is a rare red cell enzymopathy associated with moderate to severe congenital nonspherocytic haemolytic anaemia. At least 5 families reported.Created: 4 Sep 2021, 6:17 a.m. | Last Modified: 4 Sep 2021, 6:17 a.m.
Panel Version: 0.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Haemolytic anemia due to adenylate kinase deficiency, MIM# 612631
Publications
Gene: ak1 has been classified as Green List (High Evidence).
Phenotypes for gene: AK1 were changed from 612631 Hemolytic anemia due to adenylate kinase deficiency; Hemolytic anemia due to adenylate kinase deficiency, 612631 to Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631
Publications for gene: AK1 were set to 28211224
Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency; Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1
gene: AK1 was added gene: AK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK1 were set to 28211224 Phenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency, 612631; 612631 Hemolytic anemia due to adenylate kinase deficiency