This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
Dystonia is not listed on OMIM as feature of CTX, but GeneReviews for this disorder (adult onset) does include dystonia. On PMID 24442603 ataxia is listed on suspicion indexCreated: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- Cerebrotendinous xanthomatosis, CTX, 213700
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- None
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Adult onset leukodystrophy
- DDG2P
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia
- Childhood onset hereditary spastic paraplegia
- Cholestasis
- Adult onset neurodegenerative disorder
- Structural eye disease
- Retinal disorders
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- Familial hypercholesterolaemia
- Early onset dystonia
- Hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal cholestasis
- Likely inborn error of metabolism
- Glaucoma (developmental)
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset hereditary spastic paraplegia
History Filter Activity
9 Jul 2019, Gel status: 2
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene CYP27A1 was changed from to Unknown Added phenotypes Cerebrotendinous xanthomatosis, CTX, 213700 for gene: CYP27A1
2 Apr 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to CYP27A1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CYP27A1 was added gene: CYP27A1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: CYP27A1 was set to