Genomics England
GMS Panels
Panels
Genes and Entities

LDLR

low density lipoprotein receptor
OMIM: 606945
PanelMode of inheritanceDetails
2 panels
Green
in Familial hypercholesterolaemia (GMS)
R-numbers: R134
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 1, OMIM:143890
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 1 143890, LDL cholesterol level QTL2 143890