Features include always present findings: EMG: positive sharp waves, Amyotrophic lateral sclerosis, and Muscle weakness; and common findings: Difficulty swallowing (dysphagia), Dysarthria, Respiratory failure, and Tongue fasciculations. 10 total HPO annotations.

OPTN encodes optineurin (577 aa). Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Highest expression in Muscle Skeletal (367.0 TPM) and Artery Tibial (110.7 TPM).

Amyotrophic lateral sclerosis type 12 is caused by mutations in the OPTN gene on chromosome 10.

OPTN is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for OPTN is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amyotrophic lateral sclerosis type 12 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 4 common features.

No clinical trials have been registered for amyotrophic lateral sclerosis type 12.

279 publications have been identified in PubMed for amyotrophic lateral sclerosis type 12. Kisho has analyzed 187 by research type. Research spans Basic Science / Preclinical (42%), Epidemiology / Natural History (18%), and Review / Meta-Analysis (16%).