Non-syndromic familial congenital anorectal malformationsGene: DKK1
Comment on phenotypes: Added phenotype from publication PMID:25319845
Created: 14 Aug 2018, 3:39 p.m.
This gene has been added as a candidate gene for this panel due to the report of van de Putte et al 2015 (PMID: 25319845) who sequenced the DKK1 gene in 17 patients with anorectal malformations and hypospadias. They report that an earlier paper found that deletion of Dkk1, resulted in an imperforate anus with rectourinary fistula and preputial hypospadias in mice. They identified four known variants (two intronic, one synonymous, and one non-synonymous). The non-synonymous variant is predicted in silico to be damaging.
Created: 4 Aug 2018, 10:55 p.m.
Eleanor Williams: This gene has been added as a
Phenotypes for gene: DKK1 were set to anorectal malformation and hypospadias
DKK1 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
DKK1 was created by Eleanor Williams