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  3. PCSK9
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Familial hypercholesterolaemia

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - https://search.clinicalgenome.org/CCID:005746

Mechanism of disease is GoF.
Heterozygous LoF variants in this gene are associated with low levels of LDL cholesterol - PMID: 15654334
Created: 27 Nov 2024, 4:34 a.m. | Last Modified: 27 Nov 2024, 4:34 a.m.
Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypercholesterolemia, autosomal dominant, 3 MONDO:0011369

Publications

Mode of pathogenicity
Other

Created: 27 Nov 2024, 4:34 a.m.
Last Modified: 27 Nov 2024, 4:34 a.m.
Panel version: 0.27

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hypercholesterolemia, autosomal dominant, 3 MONDO:0011369
OMIM
607786
Clinvar variants
Variants in PCSK9
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Dec 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: PCSK9 were changed from to hypercholesterolemia, autosomal dominant, 3 MONDO:0011369

4 Dec 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PCSK9 were set to

4 Dec 2024, Gel status: 3

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: PCSK9 was changed from to Other

4 Dec 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: PCSK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCSK9 was added gene: PCSK9 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PCSK9 was set to Unknown