Genomics England

CYP27A1

cytochrome P450 family 27 subfamily A member 1

Panel	Mode of inheritance	Details
Filter panels13 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 8.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Cholestasis R-numbers: R171 Signed-off version 4.17	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 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	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 Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	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 9.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, 213700
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy, Cerebrotendinous xanthomatosis, 213700