Clefting
Gene: NECTIN1Clear 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.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-syndromic CLP; Zlotogora Martinez syndrome (CLP, partial syndactyly of digits, intellectual disability, dysmorphism)
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
PVRL1 was changed to NECTIN1
new-gene-name was removed from PVRL1. Panel: Clefting
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
Publications for PVRL1 were set to 26953873;11559849; 10932188
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
This gene has been classified as Green List (High Evidence).
Publications for PVRL1 were set to 26953873
PVRL1 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services
PVRL1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
PVRL1 was created by oniblock