PanelApp
  1. Genes and Genomic Entities
  2. PCSK1

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 1.23

1 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 1.24

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

Green PCSK1 in Mendeliome


Version 1.3512

1 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 0.110

0 reviews 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 1.19

1 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 2.14

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955