Retinal disorders
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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
no retinal overlap?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Eye Disorders
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- Complete
- Panels with this gene
-
- Neonatal cholestasis
- Glaucoma (developmental)
- Retinal disorders
- Leukodystrophy, adult onset
- Hereditary spastic paraplegia, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Cholestasis
- Hereditary spastic paraplegia, childhood onset
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Hereditary neuropathy or pain disorder
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia
- Hereditary ataxia, adult onset
- DDG2P
- Familial hypercholesterolaemia
- Early onset or syndromic epilepsy
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Structural eye disease
- Intellectual disability
History Filter Activity
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CYP27A1.
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CYP27A1 was created by ellenmcdonagh
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CYP27A1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red