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Unexplained young onset end-stage renal disease v0.2 COL4A6 Eleanor Williams reviewed gene: COL4A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 COL4A6 Eleanor Williams gene: COL4A6 was added
gene: COL4A6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: COL4A6 was set to Unknown
Phenotypes for gene: COL4A6 were set to (originally on Alport syndrome gene panel); diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4); Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)