Incidentalome

Gene: OPTN

Green List (high evidence)

Loss-of-function is a mechanism of disease. (PMID: 27493188) OPTN suppresses receptor-interacting kinase-1-dependent signalling by regulating its turnover. Loss of OPTN leads to the progression of demyelination and axonal degeneration.

PMID: 20428114 – 8 japanese patients from two unrelated families with an autosomal dominant inheritance pattern with incomplete penetrance.

PMID: 31838784 – A chinese woman with ALS12 with frontal temporal dementia was identified to have a pathogenic heterozygous missense mutation.

Created: 30 Mar 2023, 5:42 a.m. | Last Modified: 30 Mar 2023, 5:42 a.m.

Panel Version: 0.226

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435)

Publications

• 20428114
• 31838784
• 27493188