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Osteogenesis Imperfecta gene list

EXTENDED OSTEOGENESIS IMPERFECTA PANEL

This panel is developed for use in cases where Osteogenesis Imperfecta is suspected. OI causes brittle bones with an increased risk of fractures. Several different types OI is described, with the majority of cases arising from mutation in COL1A1 or COL1A2.

The panel is frequently evaluated and updated. The extended version includes 15 genes.

Genes list

Name OMIM Inheritance