Osteogenesis imperfectaGene: COL2A1
Comment on list classification: Conditions caused by COL2A1 wouldn't present with pathological fractures as the primary feature so not appropriate for this panel.
Created: 16 May 2016, 2:18 p.m.
I know of no evidence for COL2A1 being an OI gene. The gene has been studied for ages and the evidence would have emerged by now.
Created: 8 Dec 2015, noon
Created: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
There is good evidence to support a causal role of this gene in Stickler syndrome, Spondyloepiphyseal Dysplasia Congenita and Achondrogenesis type II, as well as other skeletal dysplasias.
Created: 28 Sep 2015, 1:32 p.m.
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Red List (Low Evidence).
COL2A1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
COL2A1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen