Genomics England
GMS Panels
Panels
Genes and Entities

LDLRAP1

low density lipoprotein receptor adaptor protein 1
OMIM: 605747
PanelMode of inheritanceDetails
2 panels
Green
in Familial hypercholesterolaemia - targeted panel
R-numbers: R134
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypercholesterolemia, familial, autosomal recessive, Familial Hypercholesterolemia, Familial Hypercholesterolaemia, Hypercholesterolemia, Hypercholesterolemia, familial, 4, 603813
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypercholesterolemia, familial, 4 603813