[osteogenesis imperfecta & Ehlers-Danlos syndrome variant databases]
[introduction]
This database aims to record all published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, BMP1, CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1 and SP7 genes.
Variants in the type III collagen gene, COL3A1, result predominantly in Ehlers-Danlos syndrome type IV. Variants in the type V collagen genes, COL5A1 and COL5A2, result predominantly in classical Ehlers-Danlos syndrome.
[the OI variant data]
BMP1 
bone morphogenetic protein 1
new data last added: 11 April 2012
corrections and other changes:
View new BMP1 data and updates
COL1A1
collagen, type I, alpha 1
new data last added: 9 May 2012
corrections and other changes: 16 April 2012
View new COL1A1data and updates
COL1A2
collagen, type I, alpha 2
new data last added: 7 February 2012
corrections and other changes: 16 April 2012
View new COL1A2 data and updates
CRTAP
cartilage associated protein
new data last added: 11 February 2011
corrections and other changes: 18 Febraury 2011
View new CRTAP data and updates
FKBP10
FK506 binding protein 10, 65 kDa
new data last added: 2 February 2012
corrections and other changes: 18 February 2011
View new FKBP10 data and updates
LEPRE1
leucine proline-enriched proteoglycan (leprecan) 1
new data last added: 27 June 2011
corrections and other changes: 18 February 2011
View new LEPRE1 data and updates
PLOD2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
new data last added: 5 July 2010
corrections and other changes: 18 February 2011
View new PLOD2 data and updates
PPIB
peptidylprolyl isomerase B (cyclophilin B)
new data last added: 2 February 2012
corrections and other changes: 16 February 2011
View new PPIB data and updates
SERPINF1
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
new data last added: 25 April 2012
corrections and other changes: 2 March 2011
View new SERPINF1 data and updates
SERPINH1
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
new data last added: 26 February 2010
corrections and other changes: 28 June 2011
View new SERPINH1 data and updates
SP7
Sp7 transcription factor
new data last added: 30 June 2010
corrections and other changes: 16 February 2011
View new SP7 data and updates
[the EDS variant data]
COL3A1
collagen, type III, alpha 1
new data last added: 7 March 2012
corrections and other changes: 7 March 2012
View new COL3A1 data and updates
COL5A1
collagen, type V, alpha 1
new data last added: 20 February 2012
corrections and other changes: 30 April 2012
View new COL5A1 data and updates
COL5A2
collagen, type V, alpha 2
new data last added: 13 November 2009
corrections and other changes: 23 August 2011
View new COL5A2 data and updates
PLOD1
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
new data last added: 5 August 2011
corrections and other changes: 23 August 2011
View new PLOD1 data and updates
PLOD3
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 3
new data last added: 29 July 2011
corrections and other changes:
View new PLOD3 data and updates
[guides to numbering the variants]
Correctly numbering variants in accordance with nomenclature recommendations can be a difficult task. To help in this process, a nomenclature summary page has been written and specific annotated guides for COL1A1, COL1A2 and COL3A1 have been prepared: last updated 19 December 2008
[This page last updated: 9 May 2012]
