Royal Prince Alfred Hospital


University of Syndey


NSW Health


Human Genome Organisation


European Bioinformatics Institute


Human Genome Variation society


Human Gene Mutation Database

 

     This database contains mutations in various genes known to cause familial hypertrophic cardiomyopathy, a genetic disorder associated with defects in the sarcomere [1].  Only gene symbols approved by HUGO are used and mutations are reported in accordance with guidelines recommended by the Mutation Database Initiative of HUGO and EBI .  Clinical phenotypes are classified as 'typical' or 'atypical'.  A 'typical' phenotype means clinical manifestations described in the WHO criteria [2] and/or McKenna's criteria [3].

References:  1. Fung DCY, et al. Human Mutation 1999 14:326-32;   2. WHO/ISFC Taskforce, Circulation 1996 93:841-2;   3. McKenna W, et al. Heart 1997 77:130-2;

 

Database Search 

 

FHC MUTATION DATABASE Version 1.1.
For more information, please contact: Dr Bing Yu or Professor R Trent.

This project is a collaborative effort between the Department of Molecular and Clinical Genetics and Department of Cardiology at the Royal Prince Alfred Hospital , and the Australian National Genomic Information Services.

The Royal Prince Alfred Hospital is a teaching hospital of the University of Sydney.

Acknowledgement: We thank the Rebecca L. Cooper Medical Research Foundation for financial support.
 
Disclaimer: Contributors are responsible for the reliability of unreviewed data published in this database. A 'confirmed' status for a mutation record merely means that the nucleotide position of the mutation in the reference GenBank DNA sequence has been verified by the curator. Users should be very cautious when using this database for diagnostic purposes and/or population screening for several reasons. (1) The phenotype/genotype correlation in most FHC cases is uncertain, (2) the 'mutation' may be a technical artifact, and (3) some of these mutations have not been confirmed by independent research groups. ]

 
This Web site is constructed and designed by Pouya Rahimi.
 Department of Molecular and Clinical Genetics Copyright © 2004
Royal Prince Alfred Hospital.
Last updated: March, 2004
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