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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | COL4A5 | Eleanor Williams reviewed gene: COL4A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | COL4A5 |
Eleanor Williams Source Expert Review Green was added to COL4A5. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | COL4A5 |
Eleanor Williams gene: COL4A5 was added gene: COL4A5 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,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 MIM 301050; Congenital or cystic renal disease; Nephropathy of unknown origin; Alport syndrome, X-linked; Glomerulopathy |
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