Amyotrophic lateral sclerosis/motor neuron disease

Gene: SOD1

Green List (high evidence)

SOD1 (superoxide dismutase 1)
EnsemblGeneIds (GRCh38): ENSG00000142168
EnsemblGeneIds (GRCh37): ENSG00000142168
OMIM: 147450, Gene2Phenotype
SOD1 is in 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Many missense variants on OMIM are reported to result in reduced function of SOD1 but see recent publication provided by reviewer PMID: 23687121.
Created: 15 Jun 2016, 1:29 p.m.
Comment on list classification: Promoted from amber to green due to expert review and is present on the NHNN panel. Multiple cases and different variants reported in OMIM.
Created: 15 Jun 2016, 1:27 p.m.
This gene is on the ALS/MND NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 13 Jun 2016, 9:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Andrew Douglas (University of Southampton / Wessex Clinical Genetics Service)

Green List (high evidence)

SOD1 is generally accepted to cause ALS predominantly through a gain-of-function mechanism, although loss of function may contribute some modifier effect to the phenotype.
Created: 26 Apr 2016, 3:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
amyotrophic lateral sclerosis

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Amyotrophic Lateral Sclerosis, Dominant
  • Amyotrophic lateral sclerosis 1, 105400
  • amyotrophic lateral sclerosis
OMIM
147450
Clinvar variants
Variants in SOD1
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 19th December 2016 following external review and internal curation

15 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SOD1 were set to Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 1, 105400; amyotrophic lateral sclerosis

15 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SOD1 were set to 23687121

15 Jun 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for SOD1 was changed to Other - please provide details in the comments

15 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SOD1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Eligibility statement prior genetic testing

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SOD1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SOD1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SOD1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SOD1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Aug 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SOD1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen

18 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SOD1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Expert,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services