Hereditary Hemorrhagic Telangiectasia and ACVRL1  

The purpose of this database is to document all known ACVRL1 gene variants including sequence based changes and large deletion/duplications that have been linked to Hereditary Hemorrhagic Telangiectasia (HHT), as well as available associated clinical information and relevant citations. The Genebank sequences NC_000012.11 and NM_000020.2 were used as reference sequences.

The basis for classification of variants with regards to clinical significance (benign, suspected benign, uncertain, suspected pathogenic, pathogenic) is varied and should be regarded as such. In general it is based on the opinion of the laboratory or laboratories reporting the mutation directly to the database, or via publication. If no classification is given this means that the available publications and other evidence have not been reviewed with regards to clinical significance for the purpose of classification in this database. Our goal is to provide available information regarding a mutation so that database users can evaluate the evidence for disease causation.

Database Information

The ACVRL1 database currently has 375 total entries.




Citations

When using this resource in publications please link to:

http://www.arup.utah.edu/database/ACVRL1/ACVRL1_welcome.php

ARUP offers the following testing for HHT:

  • HHT (ACVRL1 and ENG) Sequencing and Deletion/Duplication (test 0051382)
  • HHT (ACVRL1 and ENG) Deletion Duplication (test 0051348)
  • HHT (ACVRL1 and ENG) Sequencing (test 0051381)
  • HHT Familial Mutation, Targeted Sequencing (test 2001961)