COL1A2

Synonym(s): OI4

Locus: 7q21.3

Protein: Collagen alpha-2(I) chain

Disorder(s):

• Classic Non-deforming Osteogenesis Imperfecta with Blue Sclerae
• Perinatally Lethal Osteogenesis Imperfecta
• Progressively Deforming Osteogenesis Imperfecta
• Common Variable Osteogenesis Imperfecta with Normal Sclerae
• COL1A1/2-Related Osteogenesis Imperfecta
• Ehlers-Danlos Syndrome Type VIIB