TBC1D8B:Ensemblv115

TBC1 domain family member 8B
OMIM: 301027, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green TBC1D8B in Proteinuria


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 20, MIM# 301028