1. Genes and Genomic Entities
  2. PCSK9

PCSK9

proprotein convertase subtilisin/kexin type 9
OMIM: 607786, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green PCSK9 in Additional findings health related


Version 0.114

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Familial hypercholesterolaemia
  • Adult and child
Green PCSK9 in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Hypercholesterolemia, familial, 3, 603776
  • {Low density lipoprotein cholesterol level QTL 1}, 603776
  • Familial Hypercholesterolemia
  • Hypercholesterolemia
  • Familial Hypercholesterolaemia
Green PCSK9 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypercholesterolemia, familial, 3 603776
  • {Low density lipoprotein cholesterol level QTL 1} 603776
Green PCSK9 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Hypercholesterolemia, familial, 3 603776
    • {Low density lipoprotein cholesterol level QTL 1} 603776
    Green PCSK9 in Familial hypercholesterolaemia (GMS)


    Version 2.4
    Latest signed off version: v2.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hypercholesterolemia, familial, 3, OMIM:603776
    Red PCSK9 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green PCSK9 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypercholesterolemia, familial, 3, 603776
    Green PCSK9 in Additional findings health related - children


    Version 1.0

    Component of the following Super Panels:

  • Additional findings health related - adults

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • Adult and child
    • Familial hypercholesterolaemia