Incidentalome

Gene: OPTN

Green List (high evidence)

OPTN (optineurin)
EnsemblGeneIds (GRCh38): ENSG00000123240
EnsemblGeneIds (GRCh37): ENSG00000123240
OMIM: 602432, Gene2Phenotype
OPTN is in 3 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

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

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
602432
Clinvar variants
Variants in OPTN
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OPTN was added gene: OPTN was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OPTN was set to Unknown