Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Autoinflammatory disordersR-numbers: R413 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NAKAJO SYNDROME 256040 |
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040, Autoinflammation, lipodystrophy, and dermatosis syndrome, Contractures, panniculitis, ICC, fevers, Autoinflammatory Disorders, CANDLE syndrome |