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  3. AK1
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Cytopenias and congenital anaemias

Gene: AK1

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

1 review

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Hemolytic anemia is relevant phenotype for panel, plus sufficient cases to support causation.
Created: 9 Mar 2017, 11:06 a.m.
Comment on list classification: Updated rating from Red to Green: Sufficient cases (>3) to be confident that AK deficiency can cause Hemolytic anemia.
Created: 9 Mar 2017, 11:05 a.m.
Comment on mode of inheritance: Mode of inheritance sourced from OMIM.
Created: 9 Mar 2017, 11:04 a.m.
Created: 9 Mar 2017, 11:04 a.m.

Panel version: 0.465

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for AK1 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

AK1 was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

AK1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen