Ectodermal dysplasiaGene: GJB6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Comment when marking as ready: Found in 3/4 original sources, and rated green by expert review. Different missense variants reported to cause ectodermal dysplasia, hidrotic or ectodermal dysplasia 2, clouston type in OMIM, plus multiple more recent published reports.
Created: 22 Jul 2016, 2:20 p.m.
Comment on mode of inheritance: Confirmed on OMIM.
Created: 22 Jul 2016, 2:12 p.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: GJB6 was added gene: GJB6 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJB6 were set to 11017065; 23981984; 25575739; 25808784; 27137747 Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; Hidrotic Ectodermal Dysplasia