CTSB

cathepsin B
OMIM: 116810, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red CTSB in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Keratolytic winter erythema, MIM# 148370
Tags
  • SV/CNV