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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | DHCR7 | Eleanor Williams reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | DHCR7 |
Eleanor Williams Source Expert Review Green was added to DHCR7. 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 | DHCR7 |
Eleanor Williams gene: DHCR7 was added gene: DHCR7 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Tubulointerstitial disease; Congenital or cystic renal disease; Nephropathy of unknown origin; MIM 270400; Smith-Lemli-Opitz syndrome |
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