Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150589 | SCV000197876 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2012-02-06 | criteria provided, single submitter | clinical testing | The deletion of exon 2 of EDA has not been reported in the literature but has be en identified by our laboratory in other individuals with hypohidrotic ectoderma l dysplasia. In addition, single or multiple exon deletions in the EDA gene have been reported in individuals with XLHED, including deletions encompassing exon 2 (Kere 1996, Bayes 1998, Monreal 1998, Paakkonen 2001, Vincent 2001, Lexner 200 8, Li 2008, Gros 2010, Cluzeau 2011). This deletion is expected to lead to a tru ncated or absent protein. In summary, this variant meets our criteria to be clas sified as pathogenic (http://pcpgm.partners.org/LMM). |