Macular Dystrophy/Stargardt Disease

Gene: CDH3

Green List (high evidence)

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

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