Research opportunities

Approved genes requiring investigation

Submit an EOI

The AFGN has a number of genes that are open to all registered researchers to study. These genes have been prioritised and approved for functional studies by the clinical review committee.

If you are interested in studying any of the following genes, please follow the instructions to submit an EOI survey.

Genes available to study

CHRNA2

Disease association: Focal epilepsy

Variant consequence: In-frame deletion

Zygosity: Heterozygous

Inheritance: Autosomal dominant

NTRK2

Disease association: Epilepsy syndrome (developmental and epileptic encephalopathy) and obesity, hyperphagia, and developmental delay

Variant consequence: Missense

Zygosity: Heterozygous

Inheritance: Autosomal dominant

MAST3

Disease association: Epileptic encephalopathy

Variant consequence: Unclear ?protein altering, ?escape NMD

Zygosity: Heterozygous

Inheritance: Autosomal dominant

DNASE1L3

Disease association: Urticarial vasculitis – a skin condition characterised by an inflammation of blood vessels

Variant consequence: Variant 1: missense, splice site; Variant 2: missense

Zygosity: Compound heterozygous

Inheritance: Autosomal recessive

CHAT

Disease association: Nonimmune hydrops fetalis

Variant consequence: Missense

Zygosity: Compound heterozygous

Inheritance: Autosomal recessive

EFEMP2

Disease association: Cutis laxa – a connective tissue disease characterised by redundant skin with loss of elasticity and premature aging

Variant consequence: Variant 1: in-frame deletion; Variant 2: missense

Zygosity: Compound heterozygous

Inheritance: Autosomal recessive

ZMIZ1

Disease association: Neurodevelopment disorder

Variant consequence: 4 exon deletion

Zygosity: Heterozygous

Inheritance: Autosomal dominant

PLD3

Disease association: Leukodystrophy

Variant consequence: Frameshift, Stop gained

Zygosity: Homozygous

Inheritance: Autosomal recessive

SLC20A2

Disease association: Fahr’s disease (Neurodevelopmental disorder)

Variant consequence: Missense

Zygosity: Heterozygous

Inheritance: Autosomal dominant

MFSD8

Disease association: Occular disease

Variant consequence: Missense

Zygosity: Homozygous

Inheritance: Autosomal recessive

NF1

Disease association: Neurofibromas (Benign peripheral nerve tumor)

Variant consequence: Inframe insertion

Zygosity: Heterozygous

Inheritance: Autosomal dominant

MYH11

Disease association: Heart disease

Variant consequence: Missense

Zygosity: Heterozygous

Inheritance: Autosomal dominant

HID1

Disease association: Neurodevelopmental disorder

Variant consequence: Inframe deletion

Zygosity: Compound heterozygous

Inheritance: Autosomal recessive

FOXN4

Disease association: Neurodevelopmental disorder

Variant consequence: Missense

Zygosity: Homozygous

Inheritance: Autosomal recessive

MED12

Disease association: Developmental disorder

Variant consequence: Missense

Zygosity: Hemizygous

Inheritance: X-Linked

HUWE1

Disease association: Developmental disorder

Variant consequence: Missense

Zygosity: Hemizygous

Inheritance: X-Linked

MED23

Disease association: Neurodevelopmental disorder

Variant consequence: Missense

Zygosity: Homozygous

Inheritance: Autosomal recessive

EXOC7

Disease association: Neurodevelopmental disorder

Variant consequence: Inframe deletion

Zygosity: Homozygous

Inheritance: Autosomal recessive

RET

Disease association: Congenital malformations

Variant consequence: Missense

Zygosity: Heterozygous

Inheritance: Autosomal dominant

DUSP7

Disease association: Neurodevelopmental disorder

Variant consequence: Frameshift

Zygosity: Homozygous

Inheritance: Autosomal recessive

NOTCH3

Disease association: Hereditary cerebral small vessel disease

Variant consequence: Missense

Zygosity: Heterozygous

Inheritance: Autosomal dominant

AFG2A (SPATA5)

Disease association: Neurodevelopmental disorder

Variant consequence: Missense

Zygosity: Compound heterozygous

Inheritance: Autosomal recessive

UBE2A

Disease association: Neurodevelopmental disorder

Variant consequence: Inframe deletion

Zygosity: Hemizygous

Inheritance: X-Linked

Register your interest

Complete the EOI survey to register your interest

More information will be provided on your genes of interest to assist you in developing a project proposal on completion of this survey.

Submit an EOI

Next steps

Once you have expressed interest, further instructions will be emailed to you alongside our a copy of our project proposal form.

Applications should be emailed to functional.genomics@mcri.edu.au by the due date specified in your confirmation email (typically 2-4 weeks).

Submissions close in October 2025

The AFGN will be closing new clinical and research submissions at the end of 2025. With more than $1M in catalyst funding available, we encourage you to take advantage of our final year of funding. If you have been considering applying, now is the time to get involved!

Applicants must be members of the AFGN researcher registry to apply. Not a member? Sign up here!