Genomics England
GMS Panels
Panels
Genes and Entities

APOB

apolipoprotein B
OMIM: 107730
PanelMode of inheritanceDetails
3 panels
Green
in Familial hypercholesterolaemia (GMS)
R-numbers: R134
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 2, OMIM:144010
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypobetalipoproteinemia, OMIM:615558
Green
in Likely inborn error of metabolism
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 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypercholesterolemia, familial, 2 OMIM:144010, hypercholesterolemia, autosomal dominant, type B MONDO:0007751, Hypobetalipoproteinemia OMIM:615558, familial hypobetalipoproteinemia 1 MONDO:0014252