Clinical Domain Working Groups

The Craniofacial Malformations Gene Curation Expert Panel will work to define the strength of evidence supporting the associations of genes with various craniofacial malformations. Initial efforts will be focused on evaluating 12 genes in relation to craniosynostoses and skull abnormalities. In later phases of gene curation, we aim to investigate a broader range of disorders including malformations of the ear, midface, jaw, lip, and palate. While many genetic disorders include craniofacial phenotypes, we plan to narrow our scope to genes associated with conditions for which craniofacial malformations are one of the most prominent features, if not the presenting feature. Genes were selected based on expert consensus combined with review of literature and multi-gene sequencing panels from the Genetic Testing Registry (GTR). This process resulted in a list of 145 genes, 12 of which were selected for a first round of curation due to prevalence of variants in patients with craniosynostosis. Round 1 gene list: EFNB1, ERF, FGFR1, FGFR2, FGFR3,* MEGF8, MSX2, POR, RAB23, SKI, TCF12, and TWIST1. *To be done in tandem with the Skeletal Disorders GCEP