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Newborns main panel

Gene: PCSK1

Green List (high evidence)
PCSK1 (proprotein convertase subtilisin/kexin type 1)
EnsemblGeneIds (GRCh38): ENSG00000175426
EnsemblGeneIds (GRCh37): ENSG00000175426
OMIM: 162150, Gene2Phenotype
PCSK1 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/30383237/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Endocrinopathy due to proprotein convertase 1/3 deficiency
OMIM
162150
Clinvar variants
Variants in PCSK1
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PCSK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Dec 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, OMIM: Endocrinopathy due to proprotein convertase 1/3 deficiency to Endocrinopathy due to proprotein convertase 1/3 deficiency

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PCSK1. Added phenotypes Obesity with impaired prohormone processing, OMIM: Endocrinopathy due to proprotein convertase 1/3 deficiency for gene: PCSK1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Obesity with impaired prohormone processing, OMIM: Endocrinopathy due to proprotein convertase 1/3 deficiency for gene: PCSK1

1 Jun 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, OMIM: Endocrinopathy due to proprotein convertase 1/3 deficiency; Obesity with impaired prohormone processing to Obesity with impaired prohormone processing, OMIM: Endocrinopathy due to proprotein convertase 1/3 deficiency

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PCSK1. Added phenotypes Obesity with impaired prohormone processing, OMIM: Endocrinopathy due to proprotein convertase 1/3 deficiency for gene: PCSK1 Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: PCSK1 was added gene: PCSK1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing