Submission Form

Investigator Details

First Name *

Email *

Institutional Affiliation *

Last Name *

Telephone

Submission Category

Submission Category *

1. 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.
2. 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.
3. 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.
4. 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.