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  3. CDH18
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Non-syndromic familial congenital anorectal malformations

Gene: CDH18

Red List (low evidence)
CDH18 (cadherin 18)
EnsemblGeneIds (GRCh38): ENSG00000145526
EnsemblGeneIds (GRCh37): ENSG00000145526
OMIM: 603019, Gene2Phenotype
CDH18 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added phenotype from publication PMID:23936318
Created: 14 Aug 2018, 3:34 p.m.
Gene from Wong et al 2013 (PMID:23936318) who performed a gene network analysis using genes identified in CNVs in an earlier paper (Wong et al 2013 (PMID: 23108157))
Created: 4 Aug 2018, 9:32 p.m.
Created: 4 Aug 2018, 9:32 p.m.

Panel version: 0.4

Details

Sources
  • Literature
Phenotypes
  • anorectal malformation
OMIM
603019
Clinvar variants
Variants in CDH18
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: Gene from Wong et al 2013 (PMI

14 Aug 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CDH18 were set to anorectal malformation

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

CDH18 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature

3 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

CDH18 was created by Eleanor Williams