Ectodermal dysplasiaGene: KRT14
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported in Naegeli-Franceschetti-Jadassohn syndrome 161000
Created: 10 Aug 2016, 11:59 a.m.
Comment on phenotypes: Variants also reported in Dermatopathia pigmentosa reticularis 125595, Epidermolysis bullosa simplex, Dowling-Meara type 131760, Epidermolysis bullosa simplex, Koebner type 131900, Epidermolysis bullosa simplex, recessive 1 601001 and Epidermolysis bullosa simplex, Weber-Cockayne type 131800
Created: 10 Aug 2016, 11:58 a.m.
gene: KRT14 was added gene: KRT14 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT14 were set to 16960809 Phenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome 161000