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  3. CDH3
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Ectodermal dysplasia

Gene: CDH3

Green List (high evidence)
CDH3 (cadherin 3)
EnsemblGeneIds (GRCh38): ENSG00000062038
EnsemblGeneIds (GRCh37): ENSG00000062038
OMIM: 114021, Gene2Phenotype
CDH3 is in 10 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Congenital hypotrichosis with juvenile macular dystrophy; Ectodermal dysplasia, with ectrodactyly and macular dystrophy

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review. It is a confirmed DD gene for EEM syndrome and Hypotrichosis, congenital, with juvenile macular dystrophy. A Dutch and a Brazilian family with EEM reported in OMIM with different homozygous variants, and a further case identified in the literature for EEM.
Created: 25 Jul 2016, 9:03 a.m.
Comment on mode of inheritance: Source: OMIM and Gene2Phenotype.
Created: 25 Jul 2016, 8:56 a.m.
Created: 25 Jul 2016, 9:03 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0.86

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
OMIM
114021
Clinvar variants
Variants in CDH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CDH3 was added gene: CDH3 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDH3 were set to 22140374 Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, 601553; Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280