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| Structural eye disease v0.76 | DHCR7 | Nicola Ragge reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | DHCR7 | Ivone Leong edited their review of gene: DHCR7: Changed phenotypes: Smith-Lemli-Opitz syndrome, 270400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | DHCR7 | Ivone Leong reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis Pigmentosa and Macular Coloboma, 618220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | DHCR7 |
Ivone Leong gene: DHCR7 was added gene: DHCR7 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 |
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