Ectodermal dysplasia without a known gene mutation
Gene: NECTIN4

NECTIN4 (nectin cell adhesion molecule 4)
EnsemblGeneIds (GRCh38): ENSG00000143217
EnsemblGeneIds (GRCh37): ENSG00000143217
OMIM: 609607, Gene2Phenotype
NECTIN4 is in 6 panels

3 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 4:24 p.m.

Created: 9 Dec 2016, 4:24 p.m.

Panel version: 1.5

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported
Created: 10 Aug 2016, 10:44 a.m.

Comment on list classification: Expert review green
Created: 10 Aug 2016, 10:42 a.m.

Created: 10 Aug 2016, 10:42 a.m.

Panel version: 0.113

John McGrath (King's College London)

Green List (high evidence)

Ok ED syndactyly
Created: 19 Nov 2015, 3:06 p.m.

Phenotypes
Ectodermal dysplasia syndactyly

Created: 19 Nov 2015, 3:06 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573

OMIM

609607

Clinvar variants

Variants in NECTIN4

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Nov 2025, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: NECTIN4 were changed from Ectodermal dysplasia-syndactyly syndrome 1 613573 to Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

PVRL4 was changed to NECTIN4

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from PVRL4. Panel: Ectodermal dysplasia without a known gene mutation

10 Aug 2016, Gel status: 4