Skeletal dysplasia

Gene: COL1A2

Green List (high evidence)

One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). Monoallelic variants leading to (partial) loss of exon 6 are a well-established cause arthrochalasia type EDS.
Biallelic variant that lead to loss-of-function/absence of pro a2(I) collagen chains cause cardiac-valvular type EDS. 6 cases in 5 unrelated families have been reported with homozygous and compound heterozygous variants (PMID: 30821104).

Well established gene-disease associations, likely representing a spectrum. The more severe phenotypes can present antenatally particularly with skeletal features.

Created: 3 May 2022, 11:45 p.m. | Last Modified: 3 May 2022, 11:45 p.m.

Panel Version: 0.13653

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220

Publications

• 28306229
• 32091183
• 2993307
• 30821104

Variants in this GENE are reported as part of current diagnostic practice