Genomics England

CYP7B1

cytochrome P450 family 7 subfamily B member 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 5A, autosomal recessive, 270800
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 6.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 5A, autosomal recessive, OMIM:270800
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 5A, autosomal recessive, OMIM:270800
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bile acid synthesis defect, congenital, 3, 613812, Neonatal and Adult Cholestasis
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bile acid synthesis defect, congenital, 3 613812, Spastic paraplegia 5A, autosomal recessive 270800
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 5A, autosomal recessive , OMIM:270800