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 - targeted panel
R-numbers: R134
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 3, 603776, Familial Hypercholesterolaemia, Hypercholesterolemia, {Low density lipoprotein cholesterol level QTL 1}, 603776, Familial Hypercholesterolemia
Green
in Inborn errors of metabolism
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, 3 603776, {Low density lipoprotein cholesterol level QTL 1} 603776