Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150590 | SCV000197877 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2013-06-25 | criteria provided, single submitter | clinical testing | The deletion of exons 3 to 8 of the EDA has been reported in at least 3 males w ith X-linked hypohidrotic ectodermal dysplasia (XLHED; Lexner 2008, Gros 2010, S chneider 2011, Cluzeau 2011). In addition, other single or multiple exon deletio ns in the EDA gene have been reported in individuals with XLHED. This deletion i s expected to cause a loss of function of the EDA protein, consistent with an es tablished mechanism of pathogenicity in this disease. In summary, this variant m eets our criteria to be classified as pathogenic. |