Unmatched genes requiring investigation
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.
Complete the survey below 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.
Disease association: Refractory epilepsy
Variant consequence: Missense
Inheritance: Autosomal dominant
Disease association: Focal epilepsy
Variant consequence: In-frame deletion
Disease association: Epilepsy syndrome (developmental and epileptic encephalopathy) and obesity, hyperphagia, and developmental delay
Disease association: Epileptic encephalopathy
Variant consequence: Unclear ?protein altering, ?escape NMD
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
Disease association: Nonimmune hydrops fetalis
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
Disease association: Neurodevelopment disorder
Variant consequence: 4 exon deletion
Disease association: Leukodystrophy
Variant consequence: Frameshift, Stop gained
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 firstname.lastname@example.org by the due date specified in your confirmation email (typically 2-4 weeks).
Applicants must be members of the AFGN researcher registry to apply. Not a member? Sign up here!