Nucleotide metabolism disorders
Gene: AK1

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

Created: 4 Sep 2021, 6:18 a.m.
Last Modified: 4 Sep 2021, 6:18 a.m.
Panel version: Imported from Mendeliome panel version 0.9034

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

Nucleotide metabolism disorders Gene: AK1