Non-syndromic hypotrichosis
Gene: DSC3EnsemblGeneIds (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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Other
- Phenotypes
-
- hypotrichosis and recurrent skin vesicles disorder, 613102
- HRSV
- ?Hypotrichosis and recurrent skin vesicles, 613102
- OMIM
- 600271
- Clinvar variants
- Variants in DSC3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for DSC3 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)DSC3 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)DSC3 was added to Non-syndromic hypotrichosispanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)DSC3 was created by rfoulger