Ectodermal dysplasia without a known gene mutation
Gene: NECTIN1New gene name: NECTIN1Created: 30 Nov 2016, 5:44 p.m.
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.
Ok for rare ED cleftingCreated: 19 Nov 2015, 3:06 p.m.
Phenotypes
Ectodermal dysplasia clefting
PVRL1 was changed to NECTIN1
new-gene-name was removed from PVRL1. Panel: Ectodermal dysplasia without a known gene mutation
Publications for PVRL1 were set to 0932188; 11559849;
Promoted to version 1 10th August 2016
Mode of inheritance for PVRL1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for PVRL1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060; Orofacial cleft 7, 225060
PVRL1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Illumina TruGenome Clinical Sequencing Services
PVRL1 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
PVRL1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen