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  3. NECTIN4
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Ectodermal Dysplasia

Gene: NECTIN4

Green List (high evidence)
NECTIN4 (nectin cell adhesion molecule 4)
EnsemblGeneIds (GRCh38): ENSG00000143217
EnsemblGeneIds (GRCh37): ENSG00000143217
OMIM: 609607, Gene2Phenotype
NECTIN4 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>3 families reported with biallelic NECTIN4 variants and ectodermal dysplasia-syndactyly syndrome.
Created: 6 Dec 2021, 7:14 a.m. | Last Modified: 6 Dec 2021, 7:14 a.m.
Panel Version: 0.10136

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573)

Publications

Created: 6 Dec 2021, 7:14 a.m.
Last Modified: 6 Dec 2021, 7:14 a.m.
Panel version: Imported from Mendeliome panel version 0.10136

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia-syndactyly syndrome 1
OMIM
609607
Clinvar variants
Variants in NECTIN4
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NECTIN4 was added gene: NECTIN4 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1