GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CDH3

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed in Ectrodactyly with and without other manifestations gp of SD. AR. Two cases reported on OMIM. Further case reported by Basel-Vanagaite et al 2010. Several cases reported with 601553 that have syndactyly.Gene also associated with hypotrichosis, congenital, with juvenile macular dystrophy 601553.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280

OMIM

114021

Clinvar variants

Variants in CDH3

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: CDH3 was added gene: CDH3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: CDH3