Motor Neurone Disease
Gene: SOD1

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

Created: 3 Feb 2020, 10:23 p.m.
Last Modified: 3 Feb 2020, 10:23 p.m.
Panel version: 0.2

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