Unexplained young onset end-stage renal disease
Gene: TBC1D8BComment on phenotypes: Previously:
Steroid-resistant nephrotic syndromeCreated: 8 Jul 2021, 10:41 a.m. | Last Modified: 8 Jul 2021, 10:41 a.m.
Panel Version: 1.19
Include on the Unexplained paediatric onset end-stage renal disease panel. Review from Moin Saleem and Caroline Platt, University of Bristol.Created: 25 Sep 2019, 10:58 a.m. | Last Modified: 25 Sep 2019, 10:58 a.m.
Panel Version: 0.42
Green on the Proteinuric renal disease panel.Created: 25 Sep 2019, 10:56 a.m. | Last Modified: 25 Sep 2019, 10:56 a.m.
Panel Version: 0.41
Tag gene-checked tag was added to gene: TBC1D8B.
Phenotypes for gene: TBC1D8B were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 20, OMIM:301028
gene: TBC1D8B was added gene: TBC1D8B was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TBC1D8B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBC1D8B were set to 30661770 Phenotypes for gene: TBC1D8B were set to Steroid-resistant nephrotic syndrome