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 3.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 5A, autosomal recessive, 270800
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.34	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 4.0	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 - targeted testing not possible 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 4.0	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 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 5A, autosomal recessive , OMIM:270800