Early-onset Dementia
Gene: SOD1

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Dementia and cognitive decline are not prominent features of the conditions caused by this gene.
Created: 6 Feb 2020, 6:10 a.m. | Last Modified: 6 Feb 2020, 6:10 a.m.

Panel Version: 0.9

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 1 MIM#105400; Spastic tetraplegia and axial hypotonia, progressive MIM#618598

Publications

Created: 6 Feb 2020, 6:10 a.m.
Last Modified: 6 Feb 2020, 6:10 a.m.
Panel version: 0.9

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

OMIM

147450

Clinvar variants

Variants in SOD1

Penetrance

None

Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sod1 has been classified as Red List (Low Evidence).

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 Early-onset Dementia_MGHA_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

Early-onset Dementia Gene: SOD1