Ectodermal dysplasia without a known gene mutationGene: CDH3
Congenital hypotrichosis with juvenile macular dystrophy; Ectodermal dysplasia, with ectrodactyly and macular dystrophy
Comment on list classification: Promoted from red to green due to expert review. It is a confirmed DD gene for EEM syndrome and Hypotrichosis, congenital, with juvenile macular dystrophy. A Dutch and a Brazilian family with EEM reported in OMIM with different homozygous variants, and a further case identified in the literature for EEM.
Created: 25 Jul 2016, 9:03 a.m.
Comment on mode of inheritance: Source: OMIM and Gene2Phenotype.
Created: 25 Jul 2016, 8:56 a.m.
Promoted to version 1 10th August 2016
Publications for CDH3 were set to 22140374
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for CDH3 was changed to BIALLELIC, autosomal or pseudoautosomal
CDH3 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
CDH3 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen