PCSK1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PCSK1 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity with impaired prohormone processing, MIM# 600955

Amber PCSK1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity with impaired prohormone processing (MIM#600955)

Green PCSK1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity with impaired prohormone processing MIM#600955

Green PCSK1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity with impaired prohormone processing, 600955 (3)

Green PCSK1 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity with impaired prohormone processing MIM#600955

Green PCSK1 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity with impaired prohormone processing, 600955 (3)