Paediatric motor neuronopathies
Gene: SETXEnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 13 panels
3 reviews
Pinki Munot (Consultant )
3 families reported
recessive mutations cause spinocerebellar ataxiaCreated: 2 Mar 2017, 7:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
juvenile ALS
Arianna Tucci (Genomics England Curator)
Typically presents <25 years of age, but infantile onset has been described (PMID: 15106121)
Mutations in SETX are also associated to with ATAXIA-OCULOMOTOR APRAXIA 2.Created: 31 Jan 2017, 3:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis 4, juvenile 602433
Alice Gardham (Genomics England)
Mutations identified in three families with juvenile ALSCreated: 18 Jan 2017, 4:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis 4, juvenile 602433
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
- OMIM
- 608465
- Clinvar variants
- Variants in SETX
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Albinism or congenital nystagmus
- Undiagnosed metabolic disorders
- Paediatric motor neuronopathies
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SETX were set to 15106121
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Alice Gardham (Genomics England)SETX was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Alice Gardham (Genomics England)SETX was created by agardham