Clefting
Gene: NECTIN1EnsemblGeneIds (GRCh38): ENSG00000110400
EnsemblGeneIds (GRCh37): ENSG00000110400
OMIM: 600644, Gene2Phenotype
NECTIN1 is in 7 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Clear clefting phenotype - MIM 225060 is characterized clinically by cleft lip palate (amongst other symptoms). Possible DD-G2P gene for MIM 225060, though 3 unrelated cases in OMIM supporting gene-disease association - Rebecca Foulger (Genomics England curator), May 31, 2017, noonCreated: 31 May 2017, 11:08 a.m.
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Added more phenotype terms for disorder from OMIM and from expert reviewer.Created: 19 Jan 2017, 4:39 p.m.
Comment on list classification: Promoted from Amber to Green as a result of expert reviewer
Also from paper 26953873 study confirms the association between PVRL1 gene and nonsyndromic cleft lip with/without a cleft palate (nsCL/P) in Turkish cohort. Two novel variants of PVRL1 genes at codons 174 and 187 in exon 3, including a threonine for serine (S174T) and an asparagine for threonine (T187N) substitutions, respectively.
Mutations of PVRL1 gene have also been reported in nsCL/P (Human Gene Mutation Database www.hgmd.cf.ac.uk/ac/all.php)Created: 19 Dec 2016, 4:18 p.m.
added new-gene-name tag NECTIN1Created: 19 Dec 2016, 3:31 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-syndromic CLP; Zlotogora Martinez syndrome (CLP, partial syndactyly of digits, intellectual disability, dysmorphism)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- 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
- Cleft Lip with or without Cleft Palate
- Zlotogora-Ogur syndrome
- CLP, partial syndactyly of digits, intellectual disability, dysmorphism
- Ectodermal dysplasia, Margarita Island type
- Cleft lip
- OMIM
- 600644
- Clinvar variants
- Variants in NECTIN1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to NECTIN1. Panel: Clefting Phenotypes for gene NECTIN1 were set to Cleft lip/Palate ectodermal dysplasia syndrome, 225060, Orofacial cleft 7, 225060, Cleft Lip with or without Cleft Palate, Zlotogora-Ogur syndrome, CLP, partial syndactyly of digits, intellectual disability, dysmorphism, Ectodermal dysplasia, Margarita Island type, Cleft lip
Changed Gene Name
GEL ()PVRL1 was changed to NECTIN1
Removed Tag
GEL ()new-gene-name was removed from PVRL1. Panel: Clefting
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PVRL1 were set to 26953873;11559849; 10932188
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PVRL1 were set to Cleft lip/Palate ectodermal dysplasia syndrome, 225060; Orofacial cleft 7, 225060; Cleft Lip with or without Cleft Palate; Zlotogora-Ogur syndrome;CLP, partial syndactyly of digits, intellectual disability, dysmorphism;Ectodermal dysplasia, Margarita Island type
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for PVRL1 were set to 26953873
Added New Source
Olivia Niblock (Genomics England Curator)PVRL1 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Olivia Niblock (Genomics England Curator)PVRL1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)PVRL1 was created by oniblock