Motor Neurone Disease
Gene: SOD1
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
Tag treatable tag was added to gene: SOD1.
Gene: sod1 has been classified as Green List (High Evidence).
Phenotypes for gene: SOD1 were changed from to Amyotrophic lateral sclerosis 1 (105400 AD, AR); Spastic tetraplegia and axial hypotonia, progressive (618598 AR)
Publications for gene: SOD1 were set to
Mode of inheritance for gene: SOD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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