Childhood onset hereditary spastic paraplegia
Gene: CYP27A1EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels
5 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Generally adult onset but cannot rule out childhood onset.Created: 9 May 2019, 10:53 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)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 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: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Arianna Tucci (Genomics England Curator)
Neurologic dysfunction typically occurrs in adulthood - but early treatment with CDCA appears to prevent clinical manifestationsCreated: 25 Feb 2019, 11:33 a.m.
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.Created: 14 Jan 2019, 9:37 a.m.
Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.Created: 8 Jan 2019, 1:42 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Literature
- Phenotypes
-
- Cerebrotendinous xanthomatosis, 213700
- progressive lower extremity spasticity,often disproportionate to any degree of weakness
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary spastic paraplegia
- Structural eye disease
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Neonatal cholestasis
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Familial hypercholesterolaemia
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to CYP27A1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CYP27A1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to CYP27A1.
Set Phenotypes, Set publications, Status Update
Louise Daugherty (Genomics England Curator)Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1 Publications for gene CYP27A1 were changed from 25862734; 26874936; 28623566; 27455001; 29321515 to 25862734; 27455001; 26874936; 29321515; 28623566 Rating Changed from Green List (high evidence) to Green List (high evidence)
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: cyp27a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: CYP27A1 were set to 25862734
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 25862734 Phenotypes for gene: CYP27A1 were set to progressive lower extremity spasticity,often disproportionate to any degree of weakness