DOCK8

dedicator of cytokinesis 8
OMIM: 611432
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: miscellaneous, HyperIgE syndrome, Squamous cell carcinoma, Lymphoma
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal dominant 2, 614113Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700, HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE (AR-HIES)
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE recurrent infection syndrome, autosomal recessive, Hyper-IgE recurrent infection syndrome, impaired T cell function, Atopy, cutaneous viral infections, Combined immunodeficiency, Hyper IgE syndrome (HIES), Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis, Immunodeficiencies affecting cellular and humoral immunity
R-numbers: R332
Signed-off version 1.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE recurrent infection syndrome, autosomal recessive