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Additional findings health related

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 phenotypes: Clinically relevant transcript NM_174936.3
Created: 21 May 2018, 3:58 p.m.
Created: 21 May 2018, 3:58 p.m.

Panel version: 0.46

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Familial hypercholesterolaemia
  • Adult and child
Transcripts
  • ENST00000302118.5
  • NM_174936.3
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

27 Jan 2020, Gel status: 3

Set transcript

Catherine Snow (Genomics England)

Transcript for gene PCSK9 was changed from ENST00000302118.5 to ENST00000302118.5; NM_174936.3

20 Nov 2019, Gel status: 3

Removed Source, Removed Source, Added New Source, Set Phenotypes, Set transcript

Ellen McDonagh (Genomics England Curator)

Source Additional Findings was removed from PCSK9. Source ACMG was removed from PCSK9. Source Other was added to PCSK9. Phenotypes for gene: PCSK9 were changed from ENST00000302118.5; Familial hypercholesterolaemia; Adult and child to Familial hypercholesterolaemia; Adult and child Transcript for gene PCSK9 was changed from None to ENST00000302118.5

10 Oct 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: PCSK9 were changed from NM_174936.3; Familial hypercholesterolaemia; Adult and child to ENST00000302118.5; Familial hypercholesterolaemia; Adult and child

21 May 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PCSK9 were set to NM_174936.3; Familial hypercholesterolaemia; Adult and child

3 Apr 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PCSK9 were set to Familial hypercholesterolaemia; Adult and child

3 Apr 2018, Gel status: 3

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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

3 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PCSK9 was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings

3 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PCSK9 was created by Ellen McDonagh