Ectodermal dysplasia without a known gene mutation
Gene: CDH3

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: 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: 0.86

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280

OMIM

114021

Clinvar variants

Variants in CDH3

Penetrance

Complete

Publications

22140374

Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

25 Jul 2016, Gel status: 4