Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Autoinflammatory disordersR-numbers: R413 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Otulin-related auto inflammatory syndrome |
Green in Lipodystrophy - childhood onsetR-numbers: R158 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 |
R-numbers: R15 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099, Fever, diarrhoea, dermatitis, Autoinflammatory Disorders |