Genetics databases

 

Genome of the Netherlands (GoNL)

LifeLines

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The International Dystrophic EB Patient Registry

This registry aims to list all patients with dystrophic epidermolysis bullosa (DEB), both those published in the literature and unpublished contributions from the collaborating EB centers. For all patients, detailed information is stored on their genotype, their clinical diagnosis and phenotypic features, and the results of immunofluorescence and electron microscopy studies on skin biopsies. The registry is open to all clinicians, researchers, and patients involved in DEB.

MMR Gene Unclassified Variants Database

This database is a work in progress. It contains information from functional assays and other types of data to support the clinical interpretation of MMR gene unclassified variants. The classifications given in this database with regard to pathogenicity (likely, unlikely or inconclusive) are primarily based on the outcome of functional tests. These classifications should be used for research purposes only and are not intended for clinical use.

The Familial Cancer Database (FaCD)

FaCD can help clinicians and genetic counselors to make a genetic differential diagnosis in cancer patients. It also shows the tumor spectrum associated with hereditary disorders that have already been diagnosed in such patients. 

ARVD/C Genes Variants Database

This database contains information from clinical research and other types of data on variants found in genes causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, ARVD/C. The ARVD/C database is a useful tool for both researchers and clinicians. Mutations identified in patients can easily be found in the database, e.g. to verify if the mutation has been published before and whether the mutation is considered to be pathogenic. 

L1CAM Mutation Database

L1CAM is a neuronal cell adhesion molecule with important functions in the development of the nervous system. The gene encoding L1CAM is located near the telomere of the long arm of the X chromosome at Xq28. Mutations in L1CAM can lead to L1 syndrome, an X-linked recessive disease with an incidence of one in every 30,000 males. The phenotypic spectrum includes X-linked Hydrocephalus, also referred to as Hydrocephalus due to Stenosis of the Aqueduct of Sylvius (HSAS, MIM #307000), MASA syndrome standing for Mental Retardation, Aphasia, Shuffling gait and Adducted thumbs (MIM #303350), X-linked complicated hereditary spastic paraplegia type 1 (SPG1, MIM # 303350) and X-linked complicated corpus callosum agenesis (X-linked ACC, MIM # 304100). Clinical variability is large between and sometimes within families.