Hand and foot malformations

Gene: CDH3

Green List (high evidence)

CDH3 (cadherin 3)
EnsemblGeneIds (GRCh38): ENSG00000062038
EnsemblGeneIds (GRCh37): ENSG00000062038
OMIM: 114021, Gene2Phenotype
CDH3 is in 9 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
OMIM
114021
Clinvar variants
Variants in CDH3
Penetrance
None
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CDH3 was added gene: CDH3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280