CYP27A1

cytochrome P450 family 27 subfamily A member 1
OMIM: 606530, Gene2Phenotype

28 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 28 panels
Red CYP27A1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Red CYP27A1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green CYP27A1 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services UKGTN Emory Genetics Laboratory Phenotypes Severe neonatal cholestasis Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cerebrotendinous xanthomatosis, 213700 Cerebrotendinous Xanthomatosis CEREBROTENDINOUS XANTHOMATOSIS
Red CYP27A1 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Green CYP27A1 in White matter disorders and cerebral calcification - childhood onset Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Cholestasis Level 2: Gastrohepatology Version 4.18 Latest signed off version: v4.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Victorian Clinical Genetics Services UKGTN Emory Genetics Laboratory Phenotypes Severe neonatal cholestasis Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 8.13 Latest signed off version: v8.5 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Leukodystrophy, adult onset Level 2: Neurology Version 7.9 Latest signed off version: v7.8 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis, 213700 progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green CYP27A1 in Hereditary spastic paraplegia, childhood onset Level 2: Neurology Version 9.11 Latest signed off version: v9.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis, 213700 progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green CYP27A1 in Hereditary spastic paraplegia, adult onset Level 2: Neurology Version 6.14 Latest signed off version: v6.13 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Cerebrotendinous xanthomatosis, 213700 progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green CYP27A1 in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700 progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green CYP27A1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Literature Phenotypes Cerebrotendinous xanthomatosis 213700
Green CYP27A1 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Cerebrotendinous xanthomatosis
Green CYP27A1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.513	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Cerebrotendinous xanthomatosis, 213700 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 SNCV described in a minority of patients
Amber CYP27A1 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.73 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Cerebrotendinous xanthomatosis, 213700 seizures photosensitive epilepsy
Amber CYP27A1 in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cerebrotendinous xanthomatosis 213700 Tags watchlist
Green CYP27A1 in Hereditary ataxia, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebrotendinous xanthomatosis, 213700
Red CYP27A1 in Retinal disorders Level 2: Ophthalmology Version 9.19 Latest signed off version: v9.14 (12 Aug 2026)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Red CYP27A1 in Structural eye disease Level 2: Ophthalmology Version 5.8 Latest signed off version: v5.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes CEREBROTENDINOUS XANTHOMATOSIS, 213700 Eye Disorders
Green CYP27A1 in Dystonia, chorea or related movement disorder, adult onset Level 2: Neurology Version 6.9 Latest signed off version: v6.7 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700
Green CYP27A1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.32 Latest signed off version: v8.30 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH 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
Amber CYP27A1 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Unknown	Sources South West GLH London North GLH Expert Review Amber Phenotypes Cerebrotendinous xanthomatosis, CTX, 213700

CYP27A1

28 panels

Red CYP27A1 in Hyperammonaemia

Sources

Red CYP27A1 in Glaucoma (developmental)

Sources

Phenotypes

Green CYP27A1 in Neonatal cholestasis

Sources

Phenotypes

Green CYP27A1 in Familial hypercholesterolaemia

Sources

Phenotypes

Red CYP27A1 in Early onset dystonia

Sources

Phenotypes

Green CYP27A1 in White matter disorders and cerebral calcification - childhood onset

Sources

Phenotypes

Green CYP27A1 in Ataxia and cerebellar anomalies - childhood onset

Sources

Phenotypes

Green CYP27A1 in Cholestasis

Sources

Phenotypes

Green CYP27A1 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green CYP27A1 in Leukodystrophy, adult onset

Sources

Phenotypes

Green CYP27A1 in Hereditary ataxia

Sources

Phenotypes

Green CYP27A1 in Inherited white matter disorders

Sources

Phenotypes

Green CYP27A1 in Hereditary spastic paraplegia

Sources

Phenotypes

Green CYP27A1 in Hereditary spastic paraplegia, childhood onset

Sources

Phenotypes

Green CYP27A1 in Hereditary spastic paraplegia, adult onset

Sources

Phenotypes

Green CYP27A1 in Neurodegenerative disorders, adult onset

Sources

Phenotypes

Green CYP27A1 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green CYP27A1 in Likely inborn error of metabolism

Sources

Phenotypes

Green CYP27A1 in DDG2P

Sources

Phenotypes

Green CYP27A1 in Hereditary neuropathy

Sources

Phenotypes

Amber CYP27A1 in Early onset or syndromic epilepsy

Sources

Phenotypes

Amber CYP27A1 in Intellectual disability

Sources

Phenotypes

Tags

Green CYP27A1 in Hereditary ataxia, adult onset

Sources

Phenotypes

Red CYP27A1 in Retinal disorders

Sources

Phenotypes

Red CYP27A1 in Structural eye disease

Sources

Phenotypes

Green CYP27A1 in Dystonia, chorea or related movement disorder, adult onset

Sources

Phenotypes