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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | CLCN5 | Eleanor Williams reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | CLCN5 |
Eleanor Williams Source Expert Review Green was added to CLCN5. 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 | CLCN5 |
Eleanor Williams gene: CLCN5 was added gene: CLCN5 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: CLCN5 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: CLCN5 were set to Tubulointerstitial disease; Dent disease; Nephropathy of unknown origin; Glomerulopathy; MIM 300009 |
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