Macular Dystrophy/Stargardt Disease
Gene: CDH3

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by Clingen Retina GCEP on 05/08/2021 - https://search.clinicalgenome.org/CCID:004398

[autosomal recessive ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM)]
Created: 6 May 2024, 1:39 a.m. | Last Modified: 6 May 2024, 1:39 a.m.

Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EEM syndrome MONDO:0009155

Publications

https://search.clinicalgenome.org/CCID:004398

Created: 6 May 2024, 1:39 a.m.
Last Modified: 6 May 2024, 1:39 a.m.
Panel version: 0.45

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

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

OMIM

114021

Clinvar variants

Variants in CDH3

Penetrance

None

Panels with this gene

History Filter Activity

30 Dec 2019, 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 Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553

Macular Dystrophy/Stargardt Disease Gene: CDH3