Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Familial hypercholesterolaemia (GMS)R-numbers: R134 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hypercholesterolemia, familial, 3, OMIM:603776 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hypercholesterolemia, familial, 3 603776, {Low density lipoprotein cholesterol level QTL 1} 603776 |