Genomics England

dedicator of cytokinesis 8

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: miscellaneous, HyperIgE syndrome, Squamous cell carcinoma, Lymphoma
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700, 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
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700