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  3. PCSK1
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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 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:30383237;
Literature review of >20 individuals
Created: 31 Oct 2021, 11:33 p.m. | Last Modified: 31 Oct 2021, 11:33 p.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Obesity with impaired prohormone processing MIM#600955

Publications

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

Created: 31 Oct 2021, 11:33 p.m.
Last Modified: 31 Oct 2021, 11:33 p.m.
Panel version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity with impaired prohormone processing MIM#600955
OMIM
162150
Clinvar variants
Variants in PCSK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcsk1 has been classified as Green List (High Evidence).

1 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PCSK1 were set to

31 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCSK1 was added gene: PCSK1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green 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, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362