Cytopenia - NOT Fanconi anaemia

Gene: AK2

Green List (high evidence)

AK2 (adenylate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 8 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

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

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

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

History Filter Activity

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: AK2.

4 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to AK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Sep 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, 267500

28 Sep 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AK2 were set to 19043416

28 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ak2 has been classified as Amber List (Moderate Evidence).

28 Sep 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: AK2.

13 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: AK2 was added gene: AK2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert list Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043416 Phenotypes for gene: AK2 were set to Reticular dysgenesis, MIM# 267500 Review for gene: AK2 was set to GREEN gene: AK2 was marked as current diagnostic