APOB

apolipoprotein B
OMIM: 107730
PanelMode of inheritanceDetails
3 panels
R-numbers: R134
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Hypercholesterolemia, Familial Hypercholesterolaemia, Hypercholesterolemia, familial, 2, 144010, Hypercholesterolemia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 2 144010, Hypobetalipoproteinemia 615558
R-numbers: R324
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypercholesterolemia, familial, 2 144010, Hypobetalipoproteinemia 615558