Research panel - Severe Paediatric Disorders
Gene: PCSK9

PCSK9 (proprotein convertase subtilisin/kexin type 9)
EnsemblGeneIds (GRCh38): ENSG00000169174
EnsemblGeneIds (GRCh37): ENSG00000169174
OMIM: 607786, Gene2Phenotype
PCSK9 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Monoallelic mode of inheritance is appropriate for PCSK9, as there is only one published report of biallelic PCSK9 in a patient with familial hypercholesterolemia (FH) (PMID: 26541928). In this case, the patient did not exhibit the features of homozygous FH and her clinical features were similar to her heterozygous parents (personal communication from: Mafalda Bourbon, Department of Health Promotion & Prevention of Non-Transmissive Diseases, National Institute of Health Doutor Ricardo Jorge, Portugal).
Created: 2 Sep 2024, 4:03 p.m. | Last Modified: 2 Sep 2024, 4:03 p.m.

Panel Version: 1.189

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

26541928

Created: 2 Sep 2024, 4:03 p.m.
Last Modified: 2 Sep 2024, 4:03 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

I am not sure this gene should be included on the paediatric disorders panel for monoallelic inheritance since this form usually presents in early adult-hood; this could therefore be considered an incidental finding in childhood. As biallelic forms for FH can present much earlier I suggest inheritance is amended to biallelic only for the paediatric disorders panel
Created: 21 May 2024, 10:07 a.m. | Last Modified: 21 May 2024, 10:07 a.m.

Panel Version: 1.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 May 2024, 10:07 a.m.
Last Modified: 21 May 2024, 10:07 a.m.
Panel version: 1.184

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PCSK9; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypercholesterolemia, familial, 3, 603776 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Hypercholesterolemia, familial, 3, 603776

OMIM

607786

Clinvar variants

Variants in PCSK9

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Sep 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PCSK9 were set to 30847515

20 Feb 2020, Gel status: 3