Genomics England

CYP2U1

cytochrome P450 family 2 subfamily U member 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 9.0	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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HEREDITARY SPASTIC PARAPLEGIA 615030
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HEREDITARY SPASTIC PARAPLEGIA
Green in Hereditary ataxia with onset in adulthood Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.0	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 Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 56, autosomal recessive, OMIM:615030, hereditary spastic paraplegia 56, MONDO:0014015
Green in Retinal disorders R-numbers: R32 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 56, autosomal recessive, OMIM:615030, retinal disorder, MONDO:0005283
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 56, autosomal recessive