Severe early-onset obesity

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 2 panels

2 reviews

Ismaa Farooqi (University of Cambridge)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

stephen o'rahilly (university of cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Obesity, susceptibility to, BMIQ12}, OMIM:612362
  • Obesity with impaired prohormone processing, 600955
  • {Obesity, susceptibility to, BMIQ12}, OMIM:612362
OMIM
162150
Clinvar variants
Variants in PCSK1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PCSK1 were changed from {Obesity, susceptibility to, BMIQ12}, 612362; Congenital Obesity; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 to {Obesity, susceptibility to, BMIQ12}, OMIM:612362; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362

15 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to PCSK1. Added phenotypes Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 for gene: PCSK1

25 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.

9 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

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

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

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

18 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PCSK1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal

18 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PCSK1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PCSK1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen