Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations.

Intellectual disability (ID) is a complicated and multifactorial condition often with an unclear cause. Advancements in diagnostic techniques have identified genetic causes in a significant proportion. Pathogenic variants in TRIP12, encoding for an E3 ligand in the ubiquitin-protease pathway, have previously been identified as a cause of ID with autistic behavior and dysmorphic features.

Exploring the barriers preventing Indigenous Australians from accessing cancer genetic counseling.

In Australia, individuals of Aboriginal and Torres Strait Islander descent (Indigenous Australians) have poorer health outcomes than the general population, including higher incidence of cancer and reduced life expectancy up to 14 years compared to non-Indigenous Australians. Although differences in engagement with healthcare and beliefs about disease/cancer exist between Indigenous communities, a number of common barriers have been identified hindering attendance at mainstream health services. To inform exploration of barriers that may impact access to a cancer genetic counseling service, consultations with Aboriginal stakeholders were undertaken.

Expanding the phenotype of intellectual disability caused by HIVEP2 variants.

De novo pathogenic variants in the human immunodeficiency virus enhancer type I binding protein 2 (HIVEP2) gene, a large transcription factor predominantly expressed in the brain have previously been associated with intellectual disability (ID) and dysmorphic features in nine patients. We describe the phenotype and genotype of two additional patients with novel de novo pathogenic HIVEP2 variants, who have previously unreported features, including hyperphagia and Angelman-like features. Exome sequencing was utilized in the investigation of the patients who had previously incurred a rigorous genetic workup for their neurodevelopmental delay, and in whom no genetic cause had been detected.

Evaluation of satisfaction of parents with the use of videoconferencing for a pediatric genetic consultation.

Telegenetics is a new development in the service delivery of Genetic Services in Australia. This project was designed to establish if it was an acceptable alternative to a face-to-face consultation in the genetic assessment of intellectual disability, including morphological assessment, of the patient. Ten children from two outreach clinics in rural NSW who were referred by their pediatrician were assessed by a single geneticist via telehealth and then seen again face-to-face as a 'gold standard'.