Genomics England

CYP27A1

cytochrome P450 family 27 subfamily A member 1

Panel	Mode of inheritance	Details
Filter panels13 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Severe neonatal cholestasis, Cerebrotendinous xanthomatosis, 213700
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SNCV described in a minority of patients, Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy, Cerebrotendinous xanthomatosis, 213700
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
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 General Leukodystrophy & Mitochondrial Leukoencephalopathy, Cerebrotendinous xanthomatosis, 213700