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Inborn errors of metabolism

Gene: SETX

Green List (high evidence)

SETX (senataxin)
EnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 14 panels

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Comment on list classification: Promoted from Amber to Green. SETX is associated with two phenotypes on OMIM. There are >3 unrelated cases listed on OMIM for both these phenotypes. Therefore, enough evidence for this gene to be promoted to Green status.
Created: 31 Oct 2019, 2:58 p.m. | Last Modified: 31 Oct 2019, 2:58 p.m.
Panel Version: 1.390

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 4, juvenile, 602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:01 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:01 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:01 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hereditary ataxia

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Charcot-Marie-Tooth disease
  • Hereditary ataxia
  • Amyotrophic lateral sclerosis/motor neuron disease
OMIM
608465
Clinvar variants
Variants in SETX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: setx has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SETX. Source London North GLH was added to SETX.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SETX was added gene: SETX was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SETX were set to 27604308 Phenotypes for gene: SETX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease; Hereditary ataxia; Amyotrophic lateral sclerosis/motor neuron disease