Our research lab at JKU Linz, Austria has the capacity and the funding (externally sponsored research agreement, Alexion Pharmaceuticals, Inc) to reclassify new variants and VUS and conduct in-vitro functional testing of variants submitted to us. Classifications are conducted accoridn to ACMG/AMP standards by the ALPL gene variant consortium. Clinicians and geneticists are encouraged to report any new ALPL variant/VUS, genotype or phenotype to this site and thereby assist us in keeping it complete and up-to-date.
For submission of new variants, please register below.
Once registration is complete, please click the 'My Cases' button to add new cases.
If you cannot find the genotype or the phenotype of your patient in the database, please contact us on hppresearch@jku.at
It is our aim to provide a comprehensive, up-to-date public resource so we are keen to include these data.
Important: Before you enter clinical and genetic data you need to obtain written informed consent from your patient (unless you have received exemption status from your IRB).
No patient-identifiable data will be used. This submission portal can only be used by clinicians or geneticists.
You first need to enter data please register/login with the buttons below
Because of the importance of the data being collected - and also the connected privacy concerns, we ask you to use this site on your Computer rather than on your mobile device.
Please refer to the Homepage for more information about the ALPL Mutation Database.