PCSK5

proprotein convertase subtilisin/kexin type 5
OMIM: 600488, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PCSK5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.484

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Syndromic congenital heart disease, MONDO:0100614
Tags
  • disputed

Red PCSK5 in Mendeliome


Version 1.3664

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
  • ClinGen
Phenotypes
  • Syndromic congenital heart disease, MONDO:0100614
Tags
  • disputed