1. Genes and Genomic Entities
  2. PCSK1

PCSK1

proprotein convertase subtilisin/kexin type 1
OMIM: 162150, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PCSK1 in Severe early-onset obesity


Level 2: Endocrinology
Version 5.21
Latest signed off version: v5.0 (30 Apr 2025)

review 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 with impaired prohormone processing, OMIM:600955
  • obesity due to prohormone convertase I deficiency, MONDO:0010961
  • {Obesity, susceptibility to, BMIQ12},OMIM:612362
Amber PCSK1 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert review
Phenotypes
  • Obesity with impaired prohormone processing, OMIM:600955
  • obesity due to prohormone convertase I deficiency, MONDO:0010961
  • {Obesity, susceptibility to, BMIQ12},OMIM:612362
Green PCSK1 in Intestinal failure or congenital diarrhoea


Level 2: Gastrohepatology
Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Obesity with impaired prohormone processing, OMIM:600955
  • obesity due to prohormone convertase I deficiency, MONDO:0010961
  • {Obesity, susceptibility to, BMIQ12},OMIM:612362