Hereditary spastic paraplegia - adult 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

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Onset from 1 to 40 years.
Created: 9 May 2019, 11:07 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

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)

Green List (high evidence)

In current HSP panel + In Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 5A, autosomal recessive, 270800

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CYP7B1 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CYP7B1.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CYP7B1. Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1 Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CYP7B1.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CYP7B1 was added gene: CYP7B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP7B1 was set to