Motor Neurone Disease
Gene: SETXEnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 13 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 15106121
Reported a number of individuals with slowly progressive motor neuropathy.
age of onset is typically before the age of 25 years with slow progression and a normal life span.
PMID: 9497266
1 large family with multiple affected individuals with ALS type phenotypeCreated: 18 May 2023, 3:16 a.m. | Last Modified: 18 May 2023, 3:16 a.m.
Panel Version: 0.138
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)
- 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 Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: SETX were changed from to Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SETX were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: SETX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 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: SETX was set to Unknown