Genomics England
GMS Panels
Panels
Genes and Entities

APOC2

apolipoprotein C2
OMIM: 608083
PanelMode of inheritanceDetails
3 panels
Green
in Familial chylomicronaemia syndrome (FCS)
R-numbers: R324
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlipoproteinemia, type Ib OMIM:207750
Green
in Hereditary systemic amyloidosis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R204
Signed-off version 1.22
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlipoproteinemia, type Ib 207750, Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)