Skeletal dysplasia
Gene: CDH3
Listed in Ectrodactyly with and without other manifestations gp of SD. AR. Two cases reported on OMIM. Further case reported by Basel-Vanagaite et al 2010. Several cases reported with 601553 that have syndactyly.Gene also associated with hypotrichosis, congenital, with juvenile macular dystrophy 601553.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CDH3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. At least three variants reported in this phenotype.Created: 11 Jul 2016, 12:48 p.m.
Comment on phenotypes: Variants also reported in Hypotrichosis, congenital, with juvenile macular dystrophy 601553, but not relevant for this panelCreated: 11 Jul 2016, 12:26 p.m.
Tier 3Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280; Hypotrichosis, congenital, with juvenile macular dystrophy 601553
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 for gene: CDH3
Source NHS GMS was added to CDH3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Publications for CDH3 were set to 15805154; 22140374
Phenotypes for CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Mode of inheritance for CDH3 was changed to BIALLELIC, autosomal or pseudoautosomal
CDH3 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
CDH3 was created by sleigh
CDH3 was added to Unexplained skeletal dysplasiapanel. Sources: