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
-
- 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
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