Early-onset Dementia
Gene: SETX
SETX (senataxin)
EnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
No evidence dementia or cognitive decline is a prominent feature of the conditions caused by this gene.Created: 6 Feb 2020, 6:02 a.m. | Last Modified: 6 Feb 2020, 6:02 a.m.
Panel Version: 0.8
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 4, juvenile MIM#602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- OMIM
- 608465
- Clinvar variants
- Variants in SETX
- Penetrance
- None
- Panels with this gene
-
- Motor Neurone Disease
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Incidentalome
- Early-onset Dementia
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Dystonia - complex
- Ataxia - adult onset
- BabyScreen+ newborn screening
- Congenital nystagmus
- Ataxia - paediatric
History Filter Activity
6 Feb 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: setx has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SETX was added gene: SETX was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SETX was set to Unknown