[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 BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, MBTPS2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B and WNT1 genes.
Variants in the type III collagen gene, COL3A1, result predominantly in vascular Ehlers-Danlos syndrome. 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: 9 February 2015
View new BMP1 data and updates 
COL1A1
collagen, type I, alpha 1
new data last added: 27 June 2017
View new COL1A1data and updates
COL1A2
collagen, type I, alpha 2
new data last added: 27 June 2017
View new COL1A2 data and updates
CREB3L1
cAMP responsive element binding protein 3-like 1
new data last added: 2 October 2013
View new CREB3L1 data and updates
CRTAP
cartilage associated protein
new data last added: 24 April 2017
View new CRTAP data and updates
FKBP10
FK506 binding protein 10, 65 kDa
new data last added: 17 March 2017
View new FKBP10 data and updates
IFITM5
interferon induced transmembrane protein 5
new data last added: 21 March 2017
View new IFITM5 data and updates
MBTPS2
membrane-bound transcription factor peptidase, site 2
The database for this gene is hosted separately from that of the other genes. The variant content has not not been verified by the curators of the Osteogenesis Ipmerfecta Variant Database.
P3H1 (formerly LEPRE1)
prolyl 3-hydroxylase 1
new data last added: 17 March 2017
View new P3H1 data and updates
P4HB
prolyl 4-hydroxylase, beta polypeptide
new data last added: 16 April 2015
View new P4HB data and updates
PLOD2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
new data last added: 17 March 2017
View new PLOD2 data and updates
PLS3
plastin 3
new data last added: 14 March 2014
View new PLS3 data and updates
PPIB
peptidylprolyl isomerase B (cyclophilin B)
new data last added: 24 April 2017
View new PPIB data and updates
SEC24D
SEC24 family member D
new data last added: 7 February 2016
View new SEC24D data and updates
SERPINF1
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
new data last added: 17 March 2017
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: 17 December 2014
View new SERPINH1 data and updates
SP7
Sp7 transcription factor
new data last added: 30 June 2010
View new SP7 data and updates
SPARC
secreted protein, acidic, cysteine-rich (osteonectin)
new data last added: 8 June 2015
View new SPARC data and updates
TMEM38B
transmembrane protein 38B
new data last added: 16 March 2017
View new TMEM38B data and updates
WNT1
wingless-type MMTV integration site family, member 1
new data last added: 17 March 2017
View new WNT1 data and updates
[the EDS variant data]
ADAMTS2
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
new data last added: 31 July 2015
View new ADAMTS2 data and updates
B3GALT6
beta-1,3-galactosyltransferase 6
new data last added: 17 January 2017
View new B3GALT6 data and updates
B4GALT7
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
new data last added: 25 April 2014
View new B4GALT7 data and updates
CHST14
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
new data last added: 17 February 2016
View new CHST14 data and updates
COL3A1
collagen, type III, alpha 1
new data last added: 4 April 2017
View new COL3A1 data and updates
COL5A1
collagen, type V, alpha 1
new data last added: 23 December 2015
View new COL5A1 data and updates
COL5A2
collagen, type V, alpha 2
new data last added: 27 July 2015
View new COL5A2 data and updates
DSE
dermatan sulfate epimerase
new data last added: 26 February 2016
View new DSE data and updates
FKBP14
FK506 binding protein 14
new data last added: 08 November 2016
View new FKBP14 data and updates
PLOD1
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
new data last added: 3 October 2014
View new PLOD1 data and updates
PLOD3
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 3
new data last added: 9 June 2013
View new PLOD3 data and updates
TNXB
tenascin XB
new data last added: 4 April 2017
View new TNXB 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 is available and specific annotated guides for COL1A1, COL1A2 and COL3A1 have been prepared: last updated 23 May 2013
[This page last updated: 25 September 2017]
