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| Dyslipidaemia v0.12 | CYP27A1 | Bryony Thompson Classified gene: CYP27A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.12 | CYP27A1 | Bryony Thompson Gene: cyp27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.11 | CYP27A1 |
Bryony Thompson gene: CYP27A1 was added gene: CYP27A1 was added to Dyslipidaemia. Sources: Literature Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 30720493; 2019602; 20301583 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700 Review for gene: CYP27A1 was set to GREEN gene: CYP27A1 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease, and cases have high plasma and tissue cholestanol concentration, and normal to low plasma cholesterol concentration. Sources: Literature |
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