OPA1 - Gene browser

OPA1

OPA1 mitochondrial dynamin like GTPase

HCNC Approved Symbol: OPA1 (HGNC:8140)
Genomic Coordinates: 3:193,593,208 - 193,697,811 (3q29)
Synonyms: NTG, KIAA0567, FLJ12460, NPG, MGM1
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

27Patients

In total, 27 patients were diagnosed with a variant in the OPA1 gene.

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

027
Patient count

Optic atrophy: 7 (25.9%)
Patient Count: 7 (25.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (25.9%)
Hearing loss: 5 (18.5%)
Patient Count: 5 (18.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (18.5%)
Visual impairment: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)
Peripheral neuropathy: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)
Nystagmus: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)