Ectodermal dysplasia
Gene: DSC3Comment when marking as ready: Currently insufficient evidence to promote to Green.Created: 26 Jan 2017, 1:24 p.m.
Comment on list classification: Kept rating as red based on 1 red review and 1 report (PMID:19765682, Ayub et al., 2009) which detects a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in the DSC3 gene in 4 individuals in a family from Afghanistan.Created: 24 Jan 2017, 2:57 p.m.
Comment on mode of inheritance: OMIM supports a Biallelic mode of inheritance, based on the one report in which PMID:19765682 detect a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in the DSC3 gene.Created: 24 Jan 2017, 2:52 p.m.
Uncertainty about the bistersCreated: 21 Jan 2017, 11:24 a.m.
Single family reportedCreated: 20 Jan 2017, 4:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypotrichosis; blisters
gene: DSC3 was added gene: DSC3 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSC3 were set to 19765682 Phenotypes for gene: DSC3 were set to hypotrichosis and recurrent skin vesicles disorder, 613102; HRSV; ?Hypotrichosis and recurrent skin vesicles, 613102