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| Unexplained young onset end-stage renal disease v1.36 | TBC1D8B | Eleanor Williams Tag gene-checked tag was added to gene: TBC1D8B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.19 | TBC1D8B |
Ivone Leong Added comment: Comment on phenotypes: Previously: Steroid-resistant nephrotic syndrome |
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| Unexplained young onset end-stage renal disease v1.19 | TBC1D8B | Ivone Leong Phenotypes for gene: TBC1D8B were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 20, OMIM:301028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.42 | TBC1D8B | Moin Saleem reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.41 | TBC1D8B | Eleanor Williams reviewed gene: TBC1D8B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.40 | TBC1D8B |
Eleanor Williams 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 |
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