The BSCL2 gene homepage
BSCL2-seipinopathies variation databases - curated by the neurogenetics and metabolic-thyroid disease groups, Instituto de Investigaciones Sanitarias de Santiago de Compostela (IDIS-SERGAS), Spain.
This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
||Berardinelli-Seip congenital lipodystrophy 2 (seipin)|
||NM_001122955.3 exon/intron table|
|Associated with diseases
||CGL2, HMN5A, PELD, SPG17|
||Genomic reference sequence|
||María-Jesús Sobrido and Sergio Piñeiro|
|Total number of public variants reported
|Unique public DNA variants reported
|Individuals with public variants
||This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).|
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. We are in the process of joining efforts and merging the two databases.
||May 23, 2012|
|Date last updated
||July 07, 2023|
|Links to other resources|
||Inherited Peripheral Neuropathies Mutation Database|
|OMIM - Gene
|OMIM - Diseases
||CGL2 (lipodystrophy, congenital generalized, type 2 (CGL-2))|
HMN5A (neuropathy, motor, distal, hereditary, type Va (HMN-5A))
PELD (encephalopathy, progressive, with/without lipodystrophy (PELD))
SPG17 (paraplegia, spastic, autosomal dominant, type 17 (SPG-17, Silver))
|Copyright & disclaimer|
|The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.|
We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.