Ataxia - adult onset
Gene: SETXEnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association. The onset of ataxia can be between ages 3 and 30 years.Created: 13 Oct 2022, 2:34 a.m. | Last Modified: 13 Oct 2022, 2:34 a.m.
Panel Version: 0.176
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0018996
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Autosomal recessive spinocerebellar ataxia type 1, 606002
- ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
- Ataxia-ocular apraxia-2
- OMIM
- 608465
- Clinvar variants
- Variants in SETX
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: setx has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SETX were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SETX was added gene: SETX was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SETX were set to Autosomal recessive spinocerebellar ataxia type 1, 606002; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2