Hereditary ataxia
Gene: CYP27A1
CYP27A1 (cytochrome P450 family 27 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert and OMIMCreated: 4 Feb 2016, 2:46 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence in lit.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Cerebrotendinous xanthomatosis, 213700
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia with onset in adulthood
- Adult onset leukodystrophy
- Structural eye disease
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Familial hypercholesterolaemia
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hereditary ataxia
- Neonatal cholestasis
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
- Cholestasis
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 3
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
9 Jan 2019, Gel status: 3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
9 Jan 2019, Gel status: 3
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CYP27A1 were set to
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CYP27A1 was added to Hereditary ataxiapanel. Sources: UKGTN