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| Leukodystrophy - adult onset v0.109 | CYP27A1 | Kaitlyn Dianna Weldon reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301583; Phenotypes: cerebrotendinous xanthomatosis MONDO:0008948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.0 | CYP27A1 |
Bryony Thompson gene: CYP27A1 was added gene: CYP27A1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 |
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