Ectodermal dysplasia without a known gene mutation
Gene: NECTIN1

NECTIN1 (nectin cell adhesion molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000110400
EnsemblGeneIds (GRCh37): ENSG00000110400
OMIM: 600644, Gene2Phenotype
NECTIN1 is in 7 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

New gene name: NECTIN1
Created: 30 Nov 2016, 5:44 p.m.

Created: 30 Nov 2016, 5:44 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 three homozygous variants reported in different populations. One of these (c.554G>A, p.Trp185*) is reported as a heterozygous variant in 14 (5.8%) of 243 individuals with cleft lip with or without cleft palate in northern Venezuela (PMID 11559849)
Created: 15 Aug 2016, 7:33 a.m.

Created: 10 Aug 2016, 10:40 a.m.

Panel version: 0.112

John McGrath (King's College London)

Green List (high evidence)

Ok for rare ED clefting
Created: 19 Nov 2015, 3:06 p.m.

Phenotypes
Ectodermal dysplasia clefting

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

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Cleft lip/palate-ectodermal dysplasia syndrome, 225060
Orofacial cleft 7, 225060

OMIM

600644

Clinvar variants

Variants in NECTIN1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

PVRL1 was changed to NECTIN1

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from PVRL1. Panel: Ectodermal dysplasia without a known gene mutation

15 Aug 2016, Gel status: 4