LDLRAP1

low density lipoprotein receptor adaptor protein 1
OMIM: 605747
PanelMode of inheritanceDetails
2 panels
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypercholesterolemia, familial, 4 603813