Hereditary spastic paraplegia

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

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

helen kingston (CMFT NHS Foundation Trust, Manchester)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 14 Jun 2016, 9:34 a.m.

emma baple (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
Phenotypes
  • Spastic paraplegia 5A, autosomal recessive
OMIM
603711
Clinvar variants
Variants in CYP7B1
Penetrance
Complete
Publications
  • Tsaousidou et al. (2008) i
Panels with this gene

History Filter Activity

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP7B1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP7B1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP7B1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP7B1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen