Incidentalome
Gene: SOD1EnsemblGeneIds (GRCh38): ENSG00000142168
EnsemblGeneIds (GRCh37): ENSG00000142168
OMIM: 147450, Gene2Phenotype
SOD1 is in 8 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
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
Melanie Marty (Victorian Clinical Genetics Services)
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
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 147450
- Clinvar variants
- Variants in SOD1
- Penetrance
- None
- Panels with this gene
History Filter Activity
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 Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOD1 was set to Unknown