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  2. Newborns additional phenotypes panel 1
  3. PCSK9
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Newborns additional phenotypes panel 1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Other phenotypes with same MOI not included.

Additional Information: PCSK9 related familial hypercholesterolaemia is included in the study. LOF variants in PCSK9 are associated with low levels of LDL and should not be reported.
Created: 26 Sep 2024, 3:56 p.m. | Last Modified: 19 Nov 2025, 1:14 p.m.
Panel Version: 0.102
Created: 26 Sep 2024, 3:56 p.m.
Last Modified: 19 Nov 2025, 1:14 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 12 Oct 2023, 4:50 p.m. | Last Modified: 12 Oct 2023, 4:50 p.m.
Panel Version: 0.53
https://search.clinicalgenome.org/kb/genes/HGNC:20001
Created: 12 Oct 2023, 4:49 p.m. | Last Modified: 12 Oct 2023, 4:49 p.m.
Panel Version: 0.53
Created: 12 Oct 2023, 4:49 p.m.
Last Modified: 12 Oct 2023, 4:49 p.m.
Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Familial hypercholesterolaemia-3 Autosomal Recessive
Tags
special_consideration
OMIM
607786
Clinvar variants
Variants in PCSK9
Penetrance
None
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

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: PCSK9.

13 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PCSK9 were changed from Familial hypercholesterolemia-3 Autosomal Recessive to Familial hypercholesterolaemia-3 Autosomal Recessive

12 Oct 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: PCSK9 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

12 Oct 2023, Gel status: 3

Removed Source

Mafalda Gomes (Genomics England Curator)

Source Expert Review was removed from PCSK9.

12 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

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

12 Oct 2023, Gel status: 1

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

Mafalda Gomes (Genomics England Curator)

gene: PCSK9 was added gene: PCSK9 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Mode of inheritance for gene: PCSK9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCSK9 were set to Familial hypercholesterolemia-3 Autosomal Recessive Review for gene: PCSK9 was set to GREEN