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| Smith-Lemli-Opitz syndrome v1.2 | DHCR7 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #270400) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Smith-Lemli-Opitz syndrome v1.2 | DHCR7 | Achchuthan Shanmugasundram Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, OMIM:270400; Smith-Lemli-Opitz syndrome, MONDO:0010035 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Smith-Lemli-Opitz syndrome v0.1 | DHCR7 | Achchuthan Shanmugasundram reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Smith-Lemli-Opitz syndrome v0.1 | DHCR7 |
Achchuthan Shanmugasundram gene: DHCR7 was added gene: DHCR7 was added to Smith-Lemli-Opitz syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal |
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