Adult onset hereditary spastic paraplegia
Gene: CYP27A1EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Adult onset but cannot rule out childhood onset. Multiple families showing association.Created: 9 May 2019, 10:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
3> unrelated cases with phenotypic overlap of spasticity wit with Cerebrotendinous xanthomatosis -In sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Cerebrotendinous xanthomatosis, 213700
- progressive lower extremity spasticity,often disproportionate to any degree of weakness
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- None
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Cholestasis
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- Structural eye disease
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Familial hypercholesterolaemia
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Neonatal cholestasis
- Adult onset hereditary spastic paraplegia
- Glaucoma (developmental)
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to CYP27A1.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CYP27A1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP27A1 was set to