Childhood onset hereditary spastic paraplegia
Gene: CYP7B1EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 13 panels
4 reviews
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)
In current HSP panel and In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 5A, autosomal recessive, 270800
Arianna Tucci (Genomics England Curator)
Variable age at onset for SPG5A , childhhod onset described (19439420)Created: 14 Jan 2019, 4:37 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 5A, autosomal recessive, OMIM:270800
- OMIM
- 603711
- Clinvar variants
- Variants in CYP7B1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Cholestasis
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- Neonatal cholestasis
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Adult onset leukodystrophy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, 270800 to Spastic paraplegia 5A, autosomal recessive, OMIM:270800
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CYP7B1 were set to 19439420; 18252231
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to CYP7B1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CYP7B1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to CYP7B1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Variable age at onset for SPG5
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive, 270800
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: CYP7B1 was added gene: CYP7B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive