Genomics England
GMS Panels
Panels
Genes and Entities

LDLR

low density lipoprotein receptor
OMIM: 606945
PanelMode of inheritanceDetails
2 panels
Green
in Familial hypercholesterolaemia - targeted panel
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
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 1 143890, LDL cholesterol level QTL2 143890