Do you have the capacity to functionally analyse patient variants in known disease genes?

The following genes have been approved by the clinical review committee but have not yet been matched to a research team who is capable of performing functional studies.




SCN2A Refractory epilepsy Autosomal dominant
CHRNA2 Focal epilepsy Autosomal dominant
NTRK2 Epilepsy syndrome (developmental and epileptic encephalopathy) and obesity, hyperphagia, and developmental delay Autosomal dominant
MAST3 Epileptic encephalopathy Autosomal dominant
DNASE1L3 urticarial vasculitis Autosomal recessive
CHAT Nonimmune hydrops fetalis Autosomal recessive
NHLRC2 Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) Autosomal recessive
EFEMP2 Cutis laxa Autosomal recessive
ZMIZ1 Neurodevelopmental disorder Autosomal dominant
PLD3 Leukodystrophy Autosomal recessive


Complete the survey to register your interest. More information will be provided to assist you in developing a project proposal.

If interested, you will be emailed a copy of our project proposal form to complete. Please submit your application to by the due date specified in your confirmation email (2-4 weeks). 

We encourage researchers to utilise existing capabilities in their project design. Phenomics Australia is an NCRIS-funded initiative that offers and expertise in developing animal to assist project development. For more information, contact John Parisot at or visit