Hereditary ataxia with onset in adulthood
Gene: CYP27A1EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In Oxford and Sheffield panels. Accumulation of cholesterol in brain causes seizures / movement disorders. 103 DM in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple cases in literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrotendinous xanthomatosis, 213700
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- 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
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Bilateral congenital or childhood onset cataracts
- Cholestasis
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Adult onset neurodegenerative disorder
- Structural eye disease
- Likely inborn error of metabolism
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset leukodystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Familial hypercholesterolaemia
- Early onset or syndromic epilepsy
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Neonatal cholestasis
- Adult onset hereditary spastic paraplegia
- Retinal disorders
- Glaucoma (developmental)
- Hereditary neuropathy
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to CYP27A1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CYP27A1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to CYP27A1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal