Structural eye disease
Gene: CYP27A1EnsemblGeneIds (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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- CEREBROTENDINOUS XANTHOMATOSIS, 213700
- Eye Disorders
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- None
- Panels with this gene
-
- Neonatal cholestasis
- Likely inborn error of metabolism
- Glaucoma (developmental)
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset hereditary spastic paraplegia
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Adult onset leukodystrophy
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia
- Childhood onset hereditary spastic paraplegia
- Cholestasis
- Adult onset neurodegenerative disorder
- Structural eye disease
- Retinal disorders
- Hereditary neuropathy or pain disorder
- Familial hypercholesterolaemia
- Early onset dystonia
- Hereditary spastic paraplegia
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEREBROTENDINOUS XANTHOMATOSIS, 213700 for gene: CYP27A1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CYP27A1 was added gene: CYP27A1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CYP27A1 was set to Phenotypes for gene: CYP27A1 were set to Eye Disorders