Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R324 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperlipoproteinemia, type Ib OMIM:207750 |
Green in Hereditary systemic amyloidosisR-numbers: R204 Signed-off version 1.18 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperlipoproteinemia, type Ib 207750, Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) |
R-numbers: R257 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes |