Nucleotide metabolism disorders

Gene: AK1

Green List (high evidence)

AK1 (adenylate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000106992
EnsemblGeneIds (GRCh37): ENSG00000106992
OMIM: 103000, Gene2Phenotype
AK1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 6:18 a.m. | Last Modified: 4 Sep 2021, 6:18 a.m.
Panel Version: 0.9034

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemolytic anemia due to adenylate kinase deficiency, MIM# 612631

Publications

Details

Mode of Inheritance
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
OMIM
103000
Clinvar variants
Variants in AK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AK1 was added gene: AK1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK1 were set to 2542324; 34321014; 9432020; 10233365 Phenotypes for gene: AK1 were set to hemolytic anemia due to adenylate kinase deficiency MONDO:0012967; Disorders of purine metabolism