Ectodermal dysplasia

Gene: NECTIN1

Green List (high evidence)

NECTIN1 (nectin cell adhesion molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000110400
EnsemblGeneIds (GRCh37): ENSG00000110400
OMIM: 600644, Gene2Phenotype
NECTIN1 is in 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

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

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, 225060
  • Orofacial cleft 7, 225060
OMIM
600644
Clinvar variants
Variants in NECTIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NECTIN1 was added gene: NECTIN1 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NECTIN1 were set to 0932188; 11559849 Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060; Orofacial cleft 7, 225060