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COQ7

coenzyme Q7, hydroxylase

HCNC Approved Symbol
COQ7 (HGNC:2244)
Genomic Coordinates
16:19,067,614 - 19,083,097 (16p12.3)
Synonyms
CLK-1, CAT5
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Coenzyme Q10 deficiency, primary, 8
616733AR
Neuronopathy, distal hereditary motor, autosomal recessive 9
620402AR

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the COQ7 gene.

Frequently observed phenotypes

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

Ataxia
 2 (100.0%)
Lower limb spasticity
 2 (100.0%)
Pes cavus
 2 (100.0%)
Spastic paraplegia
 2 (100.0%)
Spasticity
 2 (100.0%)