Cytopenia - NOT Fanconi anaemia
Gene: AK2

AK2 (adenylate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:49 a.m.

Panel Version: 1.57

Comment on publications: Added publications to support association with this phenotype.
Created: 28 Sep 2020, 1:36 p.m. | Last Modified: 28 Sep 2020, 1:36 p.m.

Panel Version: 1.8

Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - >3 unrelated cases with reticular dysgenesis (leukopenia is part of the phenotype) due to biallelic variants in AK2.
Created: 28 Sep 2020, 1:18 p.m. | Last Modified: 28 Sep 2020, 1:18 p.m.

Panel Version: 1.7

Created: 28 Sep 2020, 1:18 p.m.
Last Modified: 28 Sep 2020, 1:18 p.m.
Panel version: 1.57

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 13 Sep 2020, 8:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Reticular dysgenesis, MIM# 267500

Publications

19043416

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Sep 2020, 8:34 a.m.

Panel version: 1.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Reticular dysgenesis, 267500

OMIM

103020

Clinvar variants

Variants in AK2

Penetrance

None

Publications

Panels with this gene