Genomics England

CYP27A1

cytochrome P450 family 27 subfamily A member 1

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult onset movement disorder R-numbers: R56 Signed-off version 1.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, CTX, 213700, Dystonia, Dystonia, including childhood & adult onset
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 2.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Cataracts R-numbers: R31 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Cholestasis R-numbers: R171 Signed-off version 1.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Severe neonatal cholestasis, Cerebrotendinous xanthomatosis, 213700
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 2.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Hereditary neuropathy NOT PMP22 copy number R-numbers: R78 Signed-off version 1.2	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 Hereditary spastic paraplegia - adult onset R-numbers: R60 Signed-off version 1.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green in Hereditary spastic paraplegia - childhood onset R-numbers: R61 Signed-off version 2.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Neurodegenerative disorders - adult onset R-numbers: R58 Signed-off version 2.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green in White matter disorders - adult onset R-numbers: R62 Signed-off version 1.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 1.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy, Cerebrotendinous xanthomatosis, 213700