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Fetal anomalies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

EEM syndrome denotes a disorder characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy. The ectodermal dysplasia consists of hypotrichosis affecting scalp hair, eyebrows, and eyelashes, with partial anodontia. Different degrees of absence deformities as well as syndactyly have been described, the hands often being more severely affected than the feet. The retinal lesion appears as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels.

At least 3 families reported. Disorder is allelic with Hypotrichosis with juvenile macular dystrophy (HJMD), likely part of a continuum.
Created: 11 Nov 2021, 10:49 p.m. | Last Modified: 11 Nov 2021, 10:49 p.m.
Panel Version: 0.401

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
OMIM
114021
Clinvar variants
Variants in CDH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh3 has been classified as Green List (High Evidence).

11 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDH3 were changed from EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280

11 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDH3 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDH3 was added gene: CDH3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDH3 were set to EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY