Genomics England
GMS Panels
Panels
Genes and Entities

AK2

adenylate kinase 2
OMIM: 103020
PanelMode of inheritanceDetails
3 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Reticular dysgenesis, 267500
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RETICULAR DYSGENESIS 267500
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Reticular dysgenesis with sensorineural deafness, Reticular dysgenesis, 267500, Reticular dysgenesis, AK2 deficiency, Reticular Dysgenesis AK2 (SCID), Granulocytopenia and deafness, Immunodeficiencies affecting cellular and humoral immunity