Hereditary ataxia
Gene: SETXBiallelic mode of inheritance is correct for this gene on this panel, where Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 is the relevant phenotype.Created: 19 Apr 2022, 12:39 p.m. | Last Modified: 19 Apr 2022, 12:39 p.m.
Panel Version: 1.301
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:04 a.m.
Fine. Loads of evidence. Positives in our cohortCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SETX were changed from ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SETX was changed to BIALLELIC, autosomal or pseudoautosomal
SETX was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene SETX was changed to BIALLELIC, autosomal or pseudoautosomal
SETX was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene SETX was changed to BIALLELIC, autosomal or pseudoautosomal
SETX was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
SETX was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN