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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | COL4A4 | Eleanor Williams reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | COL4A4 |
Eleanor Williams Source Expert Review Green was added to COL4A4. 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 | COL4A4 |
Eleanor Williams gene: COL4A4 was added gene: COL4A4 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: COL4A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to MIM 203780; Hypertensive nephropathy; Congenital or cystic renal disease; Nephropathy of unknown origin; Glomerulopathy; Thin basement membrane disease; Alport syndrome, autosomal dominant/recessive; 141200 |
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