Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes WIP deficiency, Wiskott-Aldrich syndrome like, WIP deficiency, ?Wiskott-Aldrich syndrome 2, 614493, Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent, ?Wiskott-Aldrich syndrome 2, 614493 |
R-numbers: R15 Signed-off version 6.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Wiskott-Aldrich syndrome like, WIP deficiency, WIP deficiency, ?Wiskott-Aldrich syndrome 2 614493, Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent, Combined immunodeficiencies with associated or syndromic features |