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| Unexplained young onset end-stage renal disease v0.2 | COL4A3 | Eleanor Williams reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | COL4A3 |
Eleanor Williams gene: COL4A3 was added gene: COL4A3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: COL4A3 were set to 25381091 Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780; Alport syndrome, autosomal dominant, 104200; Hematuria, benign familial, 141200 |
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