Motor Neurone Disease
Gene: OPTNEnsemblGeneIds (GRCh38): ENSG00000123240
EnsemblGeneIds (GRCh37): ENSG00000123240
OMIM: 602432, Gene2Phenotype
OPTN is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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: 18 May 2023, 2:49 a.m. | Last Modified: 18 May 2023, 2:49 a.m.
Panel Version: 0.138
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
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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 (MONDO: 0013264, MIM#613435)
- OMIM
- 602432
- Clinvar variants
- Variants in OPTN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: optn has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: OPTN were changed from to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435)
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: OPTN were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: OPTN was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: OPTN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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 Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: OPTN was set to Unknown