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Inborn errors of metabolism

Gene: PCSK9

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Comment on mode of pathogenicity: Gain of function variants are responsible for Hypercholesterolemia, familial, 3 603776, while loss of function variants are responsible for {Low density lipoprotein cholesterol level QTL 1} 603776.
Created: 19 Aug 2019, 2:31 p.m. | Last Modified: 19 Aug 2019, 2:31 p.m.
Panel Version: 1.215
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 gain of function variants reported in unrelated cases of Hypercholesterolemia, familial, 3 603776 and at least 5 loss of function variants have been reported in unrelated cases of {Low density lipoprotein cholesterol level QTL 1} 603776.
Created: 19 Aug 2019, 2:29 p.m. | Last Modified: 19 Aug 2019, 2:29 p.m.
Panel Version: 1.214
Comment on phenotypes: (Inherited hypercholesterolaemias)
Created: 19 Aug 2019, 2:11 p.m. | Last Modified: 19 Aug 2019, 2:11 p.m.
Panel Version: 1.212

Details

Mode of Inheritance
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
OMIM
607786
Clinvar variants
Variants in PCSK9
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 3

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: PCSK9 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pcsk9 has been classified as Green List (High Evidence).

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377 to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 603776

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PCSK9 were set to 27604308; 12730697; 14727179; 15772090; 15654334; 16909389

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PCSK9 were set to 27604308

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PCSK9 were changed from Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PCSK9. Source London North GLH was added to PCSK9.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PCSK9 was added gene: PCSK9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCSK9 were set to 27604308 Phenotypes for gene: PCSK9 were set to Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias)