Paediatric motor neuronopathies
Gene: SETX
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
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
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
Publications for gene: SETX were set to 15106121
Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SETX was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SETX was created by agardham