Ectodermal dysplasiaGene: PKP1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia, skin fragility syndrome
Comment on list classification: Promoted to green due to a green expert review, two cases reported in OMIM with additional more recent cases (see publications).
Created: 25 Jul 2016, 8:48 a.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.
gene: PKP1 was added gene: PKP1 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKP1 were set to 25565931; 22309335; 24073657 Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome, 604536; Ectodermal Dysplasia/Skin Fragility Syndrome