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DDG2P v3.12 | DHCR7 | Achchuthan Shanmugasundram reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 20635399, 10677299, 11175299, 16044199, 15952211, 12949967, 9653161, 12794707, 11857552, 10814720, 26969503, 9634533, 9714007, 9683613; Phenotypes: SMITH-LEMLI-OPITZ SYNDROME, OMIM:270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | DHCR7 | Achchuthan Shanmugasundram Publications for gene: DHCR7 were updated from 9683613; 10677299; 15952211; 16044199; 10814720; 11175299; 9653161; 9714007; 11857552; 20635399; 12794707; 12949967; 9634533 to 20635399; 15952211; 10677299; 11175299; 16044199; 12949967; 9653161; 12794707; 11857552; 10814720; 26969503; 9634533; 9714007; 9683613 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | DHCR7 | Rebecca Foulger reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DHCR7 |
Rebecca Foulger gene: DHCR7 was added gene: DHCR7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 9683613; 10677299; 15952211; 16044199; 10814720; 11175299; 9653161; 9714007; 11857552; 20635399; 12794707; 12949967; 9634533 Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME 270400 |