Genomics England
GMS Panels
Panels
Genes and Entities

DOCK2

dedicator of cytokinesis 2
OMIM: 603122
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM:616433.0, MONDO:0014637, DOCK2-related severe combined immunodeficiency
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dock 2 deficiency, Immunodeficiency 40, Immunodeficiency 40, 616433, Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells, Immunodeficiencies affecting cellular and humoral immunity