OPTN - Gene browser

OPTN

optineurin

HCNC Approved Symbol: OPTN (HGNC:17142)
Genomic Coordinates: 10:13,100,082 - 13,138,308 (10p13)
Synonyms: FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7, GLC1E
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the OPTN gene.

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

03
Patient count

Muscle weakness: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Frequent falls: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Inability to walk: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Loss of speech: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Breathing difficulties: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)