| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700 |
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Class: miscellaneous, HyperIgE syndrome, Squamous cell carcinoma, Lymphoma |
R-numbers: R15 Signed-off version 5.3 | 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 |
R-numbers: R332 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700 |