CYP7B1 - Gene browser

CYP7B1

cytochrome P450 family 7 subfamily B member 1

HCNC Approved Symbol: CYP7B1 (HGNC:2652)
Genomic Coordinates: 8:64,586,575 - 64,798,737 (8q12.3)
Synonyms: SPG5A
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the CYP7B1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

012
Patient count

Spastic paraplegia: 8 (66.7%)
Patient Count: 8 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
8 (66.7%)
Lower limb spasticity: 5 (41.7%)
Patient Count: 5 (41.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (41.7%)
Ataxia: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Spasticity: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Ankle clonus: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)