Glaucoma (developmental)
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
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBROTENDINOUS XANTHOMATOSIS; 213700
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.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
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- DDG2P
- Adult onset leukodystrophy
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Cholestasis
- Childhood onset hereditary spastic paraplegia
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Intellectual disability
- Familial hypercholesterolaemia
- Early onset dystonia
- Retinal disorders
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Neonatal cholestasis
- Glaucoma (developmental)
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
- White matter disorders and cerebral calcification - narrow panel
- Adult onset hereditary spastic paraplegia
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CYP27A1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory