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Unexplained young onset end-stage renal disease v0.50 UMOD Eleanor Williams commented on gene: UMOD: Red review was for the gene on another panel.
Unexplained young onset end-stage renal disease v0.2 UMOD Eleanor Williams reviewed gene: UMOD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 UMOD Eleanor Williams gene: UMOD was added
gene: UMOD was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UMOD were set to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Uromodulin-associated kidney disease; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860; Medullary Cystic Kidney Disease 2; Hyperuricemic nephropathy, familial juvenile 1, 162000