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White matter disorders and cerebral calcification - narrow panel v1.3 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis, 213700
White matter disorders and cerebral calcification - narrow panel v0.11 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 25655951
Phenotypes for gene: CYP27A1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis