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Unexplained young onset end-stage renal disease v0.2 | KYNU | Eleanor Williams reviewed gene: KYNU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v0.1 | KYNU |
Eleanor Williams gene: KYNU was added gene: KYNU was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 27604308; 17334708; 28792876 Phenotypes for gene: KYNU were set to ?Hydroxykynureninuria, 236800; multiple congenital malformations; VACTERL-like phenotype; Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) |