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Familial hypercholesterolaemia v1.25 | CYP27A1 | Sarah Leigh Classified gene: CYP27A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia v1.25 | CYP27A1 | Sarah Leigh Added comment: Comment on list classification: This gene is rated as green as Tendon xanthomas are a feature of Cerebrotendinous xanthomatosis, 213700, which could lead to patients being investigated for FH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia v1.25 | CYP27A1 | Sarah Leigh Gene: cyp27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia v1.23 | CYP27A1 | Sarah Leigh Publications for gene: CYP27A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia v1.21 | CYP27A1 | Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24442603: 29484516; Phenotypes: Cerebrotendinous xanthomatosis, 213700, Tendon Xanthomas, suspected FH; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |