Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mevalonic aciduria, OMIM:610377 |
Green in Autoinflammatory disordersR-numbers: R413 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mevalonic aciduria, OMIM:610377, Hyper-IgD syndrome, OMIM:260920 |
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mevalonic aciduria, OMIM:610377 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mevalonic aciduria, OMIM:610377 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, Porokeratosis 3, multiple types, OMIM:175900 |
Green in Palmoplantar keratodermasR-numbers: R166 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Porokeratosis 3, multiple types, OMIM:175900 |
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, Periodic fever and leukocytosis with high IgD levels, Autoinflammatory Disorders |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, retinitis pigmentosa, MONDO:0019200 |