Adult onset neurodegenerative disorder
Gene: SETX
slowly progressive, autosomal dominant form of juvenile ALS, defined as a chronic motor neuron disease characterized by combined upper and lower motor neuron symptoms and signs. Usual age of onset <25 years. >3 casesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 4, juvenile 602433; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2
Childhood or adolescent onset (usually less than 25 years)Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 4, juvenile 602433; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2
Publications
Variants in this GENE are reported as part of current diagnostic practice
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. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Source Wessex and West Midlands GLH was added to SETX.
Publications for gene SETX were changed from 22577233; 23129421; 23881933 (putative disease causing variants reported in Table 1). to 15106121; 23129421; 22577233; 23881933; 21438761
Source Yorkshire and North East GLH was added to SETX.
Source NHS GMS was added to SETX.
Source London North GLH was added to SETX.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 for gene: SETX
gene: SETX was added gene: SETX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SETX were set to 22577233; 23129421; 23881933 (putative disease causing variants reported in Table 1). Phenotypes for gene: SETX were set to Ataxia-ocular apraxia-2; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia