Early-onset Dementia
Gene: OPTN

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)

Well-established gene disease association with dementia a prominent feature in individuals.
Created: 15 Aug 2023, 4:38 a.m. | Last Modified: 15 Aug 2023, 4:38 a.m.

Panel Version: 0.179

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MIM#613435)

Publications

Created: 15 Aug 2023, 4:38 a.m.
Last Modified: 15 Aug 2023, 4:38 a.m.
Panel version: 0.179

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MIM#613435)

OMIM

602432

Clinvar variants

Variants in OPTN

Penetrance

None

Publications

Panels with this gene