Genomics England

cytochrome P450 family 2 subfamily U member 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 56, autosomal recessive, 615030
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HEREDITARY SPASTIC PARAPLEGIA 615030
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HEREDITARY SPASTIC PARAPLEGIA
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia type 56, 615030, Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 56, autosomal recessive