CYP27A1

Panel	Reviews	Mode of inheritance	Details
Filter panels 22 panels
Green CYP27A1 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700
Green CYP27A1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas Epilepsy Parkinsonism Ataxia Peripheral neuropathy
Green CYP27A1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CYP27A1 in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CYP27A1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis Tags treatable
Green CYP27A1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis
Green CYP27A1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red CYP27A1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700
Green CYP27A1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Royal Melbourne Hospital Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Cholestanol storage disease Dystonia
Green CYP27A1 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700
Green CYP27A1 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.11 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebrotendinous xanthomatosis, 213700 MONDO:0008948 progressive lower extremity spasticity,often disproportionate to any degree of weakness
Green CYP27A1 in Dyslipidaemia Level 2: Endocrine disorders Version 0.41 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis MIM#213700
Green CYP27A1 in Familial hypercholesterolaemia Level 2: Cardiovascular disorders Version 0.27	review	Unknown	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green
Green CYP27A1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Cholestanol storage disease
Green CYP27A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebrotendinous xanthomatosis, 213700 (3)
Green CYP27A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cerebrotendinous xanthomatosis
Green CYP27A1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis
Green CYP27A1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebrotendinous xanthomatosis, 213700 (3)
Green CYP27A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Tags treatable metabolic
Green CYP27A1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis MIM#213700
Green CYP27A1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebrotendinous xanthomatosis, 213700 (3)

CYP27A1

22 panels

Green CYP27A1 in Early-onset Dementia

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Phenotypes

Green CYP27A1 in Early-onset Parkinson disease

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Phenotypes

Green CYP27A1 in Cataract

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Green CYP27A1 in Cholestasis

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Green CYP27A1 in Mendeliome

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Phenotypes

Tags

Green CYP27A1 in Genetic Epilepsy

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Phenotypes

Green CYP27A1 in Regression

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Red CYP27A1 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green CYP27A1 in Ataxia - paediatric

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Phenotypes

Green CYP27A1 in Dystonia - complex

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Phenotypes

Green CYP27A1 in Leukodystrophy - adult onset

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Phenotypes

Green CYP27A1 in Hereditary Spastic Paraplegia - adult onset

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Phenotypes

Green CYP27A1 in Dyslipidaemia

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Phenotypes

Green CYP27A1 in Familial hypercholesterolaemia

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Green CYP27A1 in Hereditary Neuropathy - complex

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Phenotypes

Green CYP27A1 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Green CYP27A1 in Additional findings_Paediatric

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Phenotypes

Green CYP27A1 in Miscellaneous Metabolic Disorders

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Phenotypes

Green CYP27A1 in Prepair 1000+

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Phenotypes

Green CYP27A1 in BabyScreen+ newborn screening

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Phenotypes

Tags

Green CYP27A1 in Transplant Co-Morbidity Superpanel

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Phenotypes

Green CYP27A1 in Prepair 500+

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Phenotypes