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Unexplained young onset end-stage renal disease v0.2 | VHL | Eleanor Williams reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v0.1 | VHL |
Eleanor Williams gene: VHL was added gene: VHL was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome 193300 |