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  3. CDH3
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Ectodermal Dysplasia

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)

Multiple families reported. There is a phenotypic continuum between HJMD and EEM, may not be distinct disorders.
Created: 2 Apr 2021, 7:44 a.m. | Last Modified: 2 Apr 2021, 7:44 a.m.
Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553

Publications

Created: 2 Apr 2021, 7:44 a.m.
Last Modified: 2 Apr 2021, 7:44 a.m.
Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
  • Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553
OMIM
114021
Clinvar variants
Variants in CDH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 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).

2 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDH3 were changed from Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553

2 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDH3 were set to

14 Jan 2020, 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 Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome