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| Unexplained young onset end-stage renal disease v0.2 | COL4A5 | Eleanor Williams reviewed gene: COL4A5: 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) |
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| Unexplained young onset end-stage renal disease v0.1 | COL4A5 |
Eleanor Williams gene: COL4A5 was added gene: COL4A5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COL4A5 were set to Alport syndrome 301050 |
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