Non-syndromic familial congenital anorectal malformations
Gene: DKK1
DKK1 (dickkopf WNT signaling pathway inhibitor 1)
EnsemblGeneIds (GRCh38): ENSG00000107984
EnsemblGeneIds (GRCh37): ENSG00000107984
OMIM: 605189, Gene2Phenotype
DKK1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000107984
EnsemblGeneIds (GRCh37): ENSG00000107984
OMIM: 605189, Gene2Phenotype
DKK1 is in 1 panel
1 review
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Added phenotype from publication PMID:25319845Created: 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.
Details
- Sources
-
- Literature
- Phenotypes
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- anorectal malformation and hypospadias
- OMIM
- 605189
- Clinvar variants
- Variants in DKK1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
8 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: This gene has been added as a
14 Aug 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: DKK1 were set to anorectal malformation and hypospadias
3 Aug 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)DKK1 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
3 Aug 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)DKK1 was created by Eleanor Williams