This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - childhood onset
- Hereditary ataxia, adult onset
- Cholestasis
- Hereditary spastic paraplegia, adult onset
- Neurodegenerative disorders, adult onset
- Retinal disorders
- Dystonia, chorea or related movement disorder, adult onset
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Leukodystrophy, adult onset
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary spastic paraplegia, childhood onset
- Familial hypercholesterolaemia
- Early onset dystonia
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Structural eye disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)CYP27A1 was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)CYP27A1 was created by Sarah Leigh