NA = not applicable

See Table A. Genes and Databases for chromosome locus and protein.

See Molecular Genetics for information on variants detected in this gene.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

Monreal et al [1998], Chassaing et al [2006], Lexner et al [2008], van der Hout et al [2008], Cluzeau et al [2011]

Monreal et al [1999], Chassaing et al [2006], Cluzeau et al [2011], Plaisancié et al [2013]

A deletion of at least exon 4 was detected in one individual [Monreal et al 1999].

An exon 4 deletion in EDARADD has been reported in affected individuals from a Tunisian family [Cluzeau et al 2019].

To date, no large intragenic WNT10A deletions/duplications have been reported in individuals with HED.

To date, there are limited reports of individuals with features of HED and pathogenic variants in LEF1, LRP6, or TRAF6 [Wisniewski & Trzeciak 2012, Lévy et al 2020, Yu et al 2021]. A novel disease gene mapped to a 5-cM interval at 14q12-q13.1 in one large family with autosomal dominant hypohidrotic/anhidrotic ectodermal dysplasia; NFKBIA was excluded by sequence analysis [Cluzeau et al 2011].