Ectodermal dysplasia without a known gene mutation

Gene: NECTIN1

Green List (high evidence)

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.

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
  • 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

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PVRL1 were set to 0932188; 11559849;

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

10 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PVRL1 was changed to BIALLELIC, autosomal or pseudoautosomal

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PVRL1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060; Orofacial cleft 7, 225060

10 Aug 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

PVRL1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Illumina TruGenome Clinical Sequencing Services

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PVRL1 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PVRL1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen