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Unexplained young onset end-stage renal disease v0.2 | CHD1L | Eleanor Williams reviewed gene: CHD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v0.1 | CHD1L |
Eleanor Williams gene: CHD1L was added gene: CHD1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD1L were set to 24429398; 22146311 Phenotypes for gene: CHD1L were set to ORPHA93545; Renal or urinary tract malformation (CAKUT) |