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| Unexplained young onset end-stage renal disease v0.2 | COL4A1 | Eleanor Williams reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | COL4A1 |
Eleanor Williams gene: COL4A1 was added gene: COL4A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to 20818663; 18160688 Phenotypes for gene: COL4A1 were set to raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Exophytic renal cysts; haematuria |
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