Motor Neurone Disease

Gene: SOD1

Green List (high evidence)

SOD1 (superoxide dismutase 1)
EnsemblGeneIds (GRCh38): ENSG00000142168
EnsemblGeneIds (GRCh37): ENSG00000142168
OMIM: 147450, Gene2Phenotype
SOD1 is in 8 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

ALS can be dominant or recessive but is most commonly an adult onset disorder of AD transmission. AR inheritance is rare and appears limited to patient's with juvenile onset ALS or patient's with a double dose of particular mutations (PMID: 8625408). Late onset and age-dependent/reduced penetrance have been reported (PMID 21545237, 16503123)
Created: 3 Feb 2020, 10:23 p.m. | Last Modified: 3 Feb 2020, 10:23 p.m.
Panel Version: 0.2

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 1 (105400 AD, AR); Spastic tetraplegia and axial hypotonia, progressive (618598 AR)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 1 (105400 AD, AR)
  • Spastic tetraplegia and axial hypotonia, progressive (618598 AR)
Tags
treatable
OMIM
147450
Clinvar variants
Variants in SOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag treatable tag was added to gene: SOD1.

4 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sod1 has been classified as Green List (High Evidence).

4 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOD1 were changed from to Amyotrophic lateral sclerosis 1 (105400 AD, AR); Spastic tetraplegia and axial hypotonia, progressive (618598 AR)

4 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOD1 were set to

4 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOD1 was added gene: SOD1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SOD1 was set to Unknown