[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, CRTAP, FKBP10, LEPRE1 and PPIB 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]

COL1A1
collagen, type I, alpha 1
new data last added: 20 October 2009
corrections and other changes: 21 September 2009

COL1A2
collagen, type I, alpha 2
new data last added: 20 October 2009
corrections and other changes: 21 September 2009

CRTAP
cartilage associated protein
new data last added: 23 October 2009
corrections and other changes: 23 October 2009

FKBP10
FK506 binding protein 10, 65 kDa
new data last added: 13 November 2009
corrections and other changes:

LEPRE1
leucine proline-enriched proteoglycan (leprecan) 1
new data last added: 23 October 2009
corrections and other changes: 23 October 2009

PPIB
peptidylprolyl isomerase B (cyclophilin B)
new data last added: 29 September 2009
corrections and other changes:

[the EDS variant data]

COL3A1
collagen, type III, alpha 1
new data last added: 8 October 2009
corrections and other changes: 7 July 2008

COL5A2
collagen, type V, alpha 2
new data last added: 13 November 2009
corrections and other changes:

[new data]

Information about new data added to the database is now provided.

The information is also available as an RSS feed at http://www.le.ac.uk/genetics/collagen/newdata.xml

[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: updated 19 December 2008

[This page last updated: 13 November 2009]

[other information]

Acknowledgements
Who maintains and compiles the data.

Feedback
Contact the database keeper.

Citations
How to cite the database in publications.

Downloads
Download copies of papers describing the database.

Disclaimer
Disclaimer information.

Human Gene Mutation Database
Access data for other collagen gene mutations.

COLdb
The Stanford database of collagen genetics and function.

GEN2PHEN
Linking genotype to phenotype.