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Red cell 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, 6:17 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

Created: 4 Sep 2021, 6:17 a.m.
Last Modified: 4 Sep 2021, 6:17 a.m.
Panel version: 0.24

Details

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

History Filter Activity

4 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ak1 has been classified as Green List (High Evidence).

4 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AK1 were set to 28211224

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency; Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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