Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220 |
R-numbers: R15 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Tripeptidyl-Peptidase II Deficiency, TPP2 deficiency, Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome, immune thrombocytopenia and autoimmune hemolytic anemia, Evans syndrome, Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections, Diseases of Immune Dysregulation, Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220 |