TBC1D8B

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TBC1D8B in Mendeliome


Version 2.0

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

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
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome, type 20, MIM# 301028