Submit a disease variant to establish a connection
Who can submit a gene?
Australian clinicians and diagnostic labs (including research diagnostic groups) discovering genes or variants of unknown significance (VUS/GUS) in patients, who want to connect with functional genomics researchers who can investigate the functions of those genes and/or the functional attributes of the gene variants.
Which genes/variants should be submitted?
The Network welcomes the submission of functional genomics studies in the following categories associated with either a rare disease or inherited cancer.
- Novel gene: A gene not previously associated with disease - a potential pathogenic variant identified in a single patient/family/isolated population - additional functional data is necessary to support disease-causation.
- Candidate gene: A gene that has not previously been associated with disease, but supported by genetic evidence (potential pathogenic variants identified in more than one case of unrelated patients with a similar clinical phenotype) - functional data is being rapidly sought prior to publication.
- Novel phenotype association in a known disease gene: A variant in a known disease gene causing a clinical phenotype that appears to be different to previously reported genotype-phenotype reports - functional data required to determine how the gene contributes to the phenotype.
- Variant of unknown significance: The variant has characteristics of being an independent disease-causing mutation, but insufficient or conflicting evidence exists - functional data needed to confirm variant is causative.