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| Structural eye disease v0.76 | CYP27A1 | Nicola Ragge reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBROTENDINOUS XANTHOMATOSIS, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | CYP27A1 | Ivone Leong reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBROTENDINOUS XANTHOMATOSIS, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | CYP27A1 |
Ivone Leong Source NHS GMS was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEREBROTENDINOUS XANTHOMATOSIS, 213700 for gene: CYP27A1 |
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| Structural eye disease v0.2 | CYP27A1 |
Ellen McDonagh gene: CYP27A1 was added gene: CYP27A1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CYP27A1 was set to Phenotypes for gene: CYP27A1 were set to Eye Disorders |
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