Given this context: Chromosome 16, gene IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Craniofacial dysplasia - osteopenia syndrome