Genomics England
GMS Panels
Panels
Genes and Entities

PCSK9

proprotein convertase subtilisin/kexin type 9
OMIM: 607786
PanelMode of inheritanceDetails
2 panels
Green
in Familial hypercholesterolaemia (GMS)
R-numbers: R134
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 3, OMIM:603776
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 3 603776, {Low density lipoprotein cholesterol level QTL 1} 603776