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  3. AK1
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Non-Fanconi anaemia

Gene: AK1

Red List (low evidence)
AK1 (adenylate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000106992
EnsemblGeneIds (GRCh37): ENSG00000106992
OMIM: 103000, Gene2Phenotype
AK1 is in 3 panels

1 review

Helen Savage (Congenica Ltd)

I don't know

Reports of mutations in AK1 identified in 3 independent families. Possibly not causative.
Created: 26 Jan 2016, 4:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemolytic anemia due to adenylate kinase deficiency

Publications

Created: 26 Jan 2016, 4:58 p.m.

Panel version: 0.228

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to adenylate kinase deficiency, 612631
OMIM
103000
Clinvar variants
Variants in AK1
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AK1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AK1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AK1 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen