Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Autoinflammatory disordersR-numbers: R413 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Interleukin 1 receptor antagonist deficiency, OMIM:612852 |
R-numbers: R15 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Interleukin 1 receptor antagonist deficiency, OMIM:612852, Sterile multifocal osteomyelitis, periostitis, and pustulosis, DIRA, Autoinflammatory Disorders |
R-numbers: R332 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Interleukin 1 receptor antagonist deficiency, OMIM:612852 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Interleukin 1 receptor antagonist deficiency, OMIM:612852 |