Bilateral congenital or childhood onset cataracts
Gene: CYP27A1EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Phenotypes
Cerebrotendinous xanthomatosis
Publications
- Gallus et al (2010) Eur J Neurol 17:1259-1262
- Garuti et al (1997) J Lipid Res 38:2322-2334
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green due to expert review and evidence provided.Created: 31 May 2016, 9:03 a.m.
Is on the Manchester congenital cataracts gene panel. Associated with Cerebrotendinous xanthomatosis in OMIM, which includes Juvenile cataracts as a phenotype. Only case reported on OMIM.Created: 29 Apr 2016, 10:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Cerebrotendinous xanthomatosis, 213700
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- Complete
- Publications
-
- Gallus et al (2010) Eur J Neurol 17:1259-1262
- Garuti et al (1997) J Lipid Res 38:2322-2334
- 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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CYP27A1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CYP27A1 were set to Gallus et al (2010) Eur J Neurol 17:1259-1262; Garuti et al (1997) J Lipid Res 38:2322-2334
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CYP27A1 were set to Cerebrotendinous xanthomatosis
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()CYP27A1 was added to Cataractspanel. Sources: UKGTN