Hereditary spastic paraplegia - childhood onset

Gene: CYP7B1

Green List (high evidence)

CYP7B1 (cytochrome P450 family 7 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 12 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Onset from 1 to 40 years.
Created: 9 May 2019, 11:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

In current HSP panel and In Sheffields HSP panel
Created: 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, 270800
OMIM
603711
Clinvar variants
Variants in CYP7B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CYP7B1 were set to 19439420; 18252231

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CYP7B1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CYP7B1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CYP7B1.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Variable age at onset for SPG5

28 Jan 2019, Gel status: 4

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

28 Jan 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i

19 Dec 2018, Gel status: 4

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