Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R324 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hyperlipoproteinemia, type III OMIM:617347, hyperlipoproteinemia type 3 MONDO:0018473, Lipoprotein glomerulopathy OMIM:611771, lipoprotein glomerulopathy MONDO:0012725 |
Green in Familial hypercholesterolaemia (GMS)R-numbers: R134 Signed-off version 2.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hyperlipoproteinemia, type III, OMIM:617347 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias), Hyperlipoproteinemia, type III 617347, Sea-blue histiocyte disease 269600, Lipoprotein glomerulopathy 611771 |
Green in Proteinuric renal diseaseComponent of the following Super Panels:
R-numbers: R195 Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Lipoprotein glomerulopathy, OMIM:611771 |