GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
WNT10A W9Xinsufficiently evaluated pathogenicunknown
WNT10A R104Linsufficiently evaluated noneunknown
WNT10A C107Xinsufficiently evaluated pathogenic, f=0.001unknown
WNT10A R128Qinsufficiently evaluated pathogenic, f=0.000unknown
WNT10A G165Rinsufficiently evaluated not reviewed, f=0.007unknown

(3 web hits)

CGI sample GS00253-DNA_B02_200_37
var-GS06985-1100-36-ASM
WNT10A R171Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_A04 from PGP sample 08188426
WNT10A G213Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
WNT10A F228Ilikely pathogenic, f=0.019unknown

Causes ectodermal dysplasia in a recessive manner (malformations of teeth and nails, abnormal/loss of sweating). Although reports have high statistical significance, allele frequency for this variant is high relative to the incidence of the disease. This suggests it may be milder than other pathogenic variants and cause disease with less than 100% penetrance and/or that the disease is more common than reported. Bohring et al. report heterozygotes for pathogenic variants in this gene often have milder skin, tooth, and nail abnormalities, with males having a higher rate of tooth abnormalities.

var-GS06994-1100-36-ASM
WNT10A E233Xinsufficiently evaluated pathogenicunknown
WNT10A C376Xinsufficiently evaluated pathogenicunknown
Total results: 10

Gene search

"GENE" or "GENE A123C":

Log in