ALSOD collates information about genes and genetic variants connected to ALS. This may include some genes with variants that have been shown to be related to ALS, but the evidence is weak.
We also record information about genes and variants that may affect clinical aspects of the disease, for example how long people live after diagnosis.
Rather than only show those genes with strong evidence of being relevant in ALS we have kept information about all recorded genes in ALSOD but have categorised the genes.
The categorisation is subject to change on the basis of new evidence and is a consensus categorisation, which we accept may be debatable between experts.
We are writing individual reviews for each gene to explain why we have assigned the categories, which we will upload over the next few months.
The categories we have used are found in the table below, which can be used to filter all genes recorded in ALSOD.
Definitive ALS genes
Genes in ALSOD
Select
Category
Description
Definitive ALS gene
Variants in these genes have been shown to increase the risk of ALS based on a statistical test.
The highest class of statistical evidence comes from genetic linkage studies, however genome-wide association studies
with appropriate functional evidence or strong replication evidence, may also be considered to indicate a gene having variants that can cause ALS.
Clinical modifier
Genetic variants in these genes have been linked to a difference in the clinical phenotype of ALS, often disease duration.
Strong evidence
Variants in these genes have been shown to increase ALS risk in well-conducted recent studies, but require replication or resolution of conflicting evidence.
Moderate evidence
Variants in these genes have been associated with ALS in smaller studies or there may be very contradictory evidence.
Tenuous
Genetic variants in these genes have been associated with ALS in smaller studies published some time ago that have not stood up to replication.
They may also be genes that have been associated with ALS-like diseases, which are no longer recognised as a clinical diagnosis of ALS –
for example some juvenile motor neuron disorders.
Unassigned
Variants in these genes have been linked to ALS phenotype but the category has not yet been assigned.