Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes autoimmunity, Developmental delay, immunodefficiency, TPP2-related immune deficiency, autoimmune disease and intellectual disability |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220 |
R-numbers: R15 Signed-off version 6.0 | 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 |