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 (GMS)
R-numbers: R134
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypercholesterolemia, familial, 4, OMIM:603813
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypercholesterolemia, familial, 4 603813