TBC1D1:Ensemblv115

TBC1 domain family member 1
OMIM: 609850, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TBC1D1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • CAKUT

Green TBC1D1 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • CAKUT