Hereditary ataxia with onset in adulthood
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, 12:33 p.m. | Last Modified: 19 Apr 2022, 12:33 p.m.
Panel Version: 2.156
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
On Ox and Sheffield panels. AOA2Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Lots of variants and patients in literature. Also allegedly associated with an AD form of ALS - remain unconvinced about this, in our experience gene is quite polymorphic for missense variants (gnomAD also far from supporting for this form, especially as 'juvenile' onset)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia type 1, 606002
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; Autosomal recessive spinocerebellar ataxia type 1, 606002; Ataxia-ocular apraxia-2 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Source London North GMS was added to SETX.
Added phenotypes Autosomal recessive spinocerebellar ataxia type 1, 606002 for gene: SETX
Source NHS GMS was added to SETX.
Source Wessex and West Midlands GLH was added to SETX.
Checked panel against panel constituents. Ready to promote to version 1.
gene: SETX was added gene: SETX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SETX were set to ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2