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 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 2 OMIM:144010, hypercholesterolemia, autosomal dominant, type B MONDO:0007751, Hypobetalipoproteinemia OMIM:615558, familial hypobetalipoproteinemia 1 MONDO:0014252
R-numbers: R331
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypobetalipoproteinemia, OMIM:615558