[osteogenesis imperfecta & Ehlers-Danlos syndrome variant databases]

collagen helix

[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, 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
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COL1A1
collagen, type I, alpha 1
new data last added: 23 March 2017
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COL1A2
collagen, type I, alpha 2
new data last added: 16 March 2017
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CREB3L1
cAMP responsive element binding protein 3-like 1
new data last added: 2 October 2013
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CRTAP
cartilage associated protein
new data last added: 17 March 2017
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FKBP10
FK506 binding protein 10, 65 kDa
new data last added: 17 March 2017
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IFITM5
interferon induced transmembrane protein 5
new data last added: 21 March 2017
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P3H1 (formerly LEPRE1)
prolyl 3-hydroxylase 1
new data last added: 17 March 2017
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P4HB
prolyl 4-hydroxylase, beta polypeptide
new data last added: 16 April 2015
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PLOD2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
new data last added: 17 March 2017
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PLS3
plastin 3
new data last added: 14 March 2014
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PPIB
peptidylprolyl isomerase B (cyclophilin B)
new data last added: 1 March 2017
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SEC24D
SEC24 family member D
new data last added: 7 February 2016
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SERPINF1
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
new data last added: 17 March 2017
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SERPINH1
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
new data last added: 17 December 2014
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SP7
Sp7 transcription factor
new data last added: 30 June 2010
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SPARC
secreted protein, acidic, cysteine-rich (osteonectin)
new data last added: 8 June 2015
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TMEM38B
transmembrane protein 38B
new data last added: 16 March 2017
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WNT1
wingless-type MMTV integration site family, member 1
new data last added: 17 March 2017
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[the EDS variant data]

ADAMTS2
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
new data last added: 31 July 2015
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B3GALT6
beta-1,3-galactosyltransferase 6
new data last added: 17 January 2017
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B4GALT7
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
new data last added: 25 April 2014
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CHST14
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
new data last added: 17 February 2016
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COL3A1
collagen, type III, alpha 1
new data last added: 16 March 2017
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COL5A1
collagen, type V, alpha 1
new data last added: 23 December 2015
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COL5A2
collagen, type V, alpha 2
new data last added: 27 July 2015
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DSE
dermatan sulfate epimerase
new data last added: 26 February 2016
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FKBP14
FK506 binding protein 14
new data last added: 08 November 2016
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PLOD1
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
new data last added: 3 October 2014
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PLOD3
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 3
new data last added: 9 June 2013
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TNXB
tenascin XB
new data last added: 16 Febraury 2016
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[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: 23 March 2017]