Ectodermal dysplasiaGene: HOXC13
Comment on list classification: Promoted from red to green due to expert review and further evidence; it is a confirmed DD gene for pure hair and nail ectodermal dysplasia. More than 3 cases, and 3 different variants reported in OMIM in individuals from different ethnicities.
Created: 25 Jul 2016, 9:07 a.m.
Comment on mode of inheritance: Source: OMIM and Gene2Phenotype.
Created: 25 Jul 2016, 9:05 a.m.
Fine to retain for hair/nail ED
Created: 19 Nov 2015, 3:06 p.m.
hair/nail Ectodermal dysplasia
gene: HOXC13 was added gene: HOXC13 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9, hair/nail type, 614931