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| DDG2P v3.12 | CYP27A1 | Achchuthan Shanmugasundram reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 2019602, 16278884; Phenotypes: Cerebrotendinous xanthomatosis, OMIM:213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CYP27A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CYP27A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.81 | CYP27A1 | Rebecca Foulger commented on gene: CYP27A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.81 | CYP27A1 |
Rebecca Foulger gene: CYP27A1 was added gene: CYP27A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 2019602; 16278884 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis |
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