Ectodermal dysplasia

Gene: DSC3

Red List (low evidence)

DSC3 (desmocollin 3)
EnsemblGeneIds (GRCh38): ENSG00000134762
EnsemblGeneIds (GRCh37): ENSG00000134762
OMIM: 600271, Gene2Phenotype
DSC3 is in 4 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment 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.

Celia Moss (Birmingham Children's Hospital)

Red List (low evidence)

Uncertainty about the bisters
Created: 21 Jan 2017, 11:24 a.m.
Single family reported
Created: 20 Jan 2017, 4:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypotrichosis; blisters

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hypotrichosis and recurrent skin vesicles disorder, 613102
  • HRSV
  • ?Hypotrichosis and recurrent skin vesicles, 613102
OMIM
600271
Clinvar variants
Variants in DSC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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