Table 7.

Hypohidrotic Ectodermal Dysplasia: Notable Pathogenic Variants by Gene

Gene 1Reference SequencesDNA Nucleotide Change
(Alias 2)		Predicted Protein ChangeComment [Reference]
EDAR NM_022336​.4
NP_071731​.1 		c.338G>Ap.Cys113TyrAssoc w/HED & addl findings of amastia & palmoplantar hyperkeratosis [Haghighi et al 2013]
NM_022336​.4 c.803+1G>A
(IVS9+1G>A)		--Assoc w/HED & addl findings of amastia & palmoplantar hyperkeratosis [Mégarbané et al 2008]

WNT10A

NM_025216​.3
NP_079492​.2 		c.321C>Ap.Cys107TerOne of the most common WNT10A pathogenic variants

HED = hypohidrotic ectodermal dysplasia

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Genes from Table 1 in alphabetic order

2.

Variant designation that does not conform to current naming conventions

From: Hypohidrotic Ectodermal Dysplasia

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