LDLR

low density lipoprotein receptor
OMIM: 606945
PanelMode of inheritanceDetails
2 panels
R-numbers: R134
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LDL cholesterol level QTL2, 143890, Familial Hypercholesterolaemia, Hypercholesterolemia, Familial Hypercholesterolemia, Hypercholesterolemia, familial, 1, 143890, C3 Hypercholesterolemia, familial
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 1 143890, LDL cholesterol level QTL2 143890