Hair disorders
Gene: DSC3
DSC3 (desmocollin 3)
EnsemblGeneIds (GRCh38): ENSG00000134762
EnsemblGeneIds (GRCh37): ENSG00000134762
OMIM: 600271, Gene2Phenotype
DSC3 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000134762
EnsemblGeneIds (GRCh37): ENSG00000134762
OMIM: 600271, Gene2Phenotype
DSC3 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
2 unrelated cases reported with homozygous nonsense mutations. A conditional null allele in a mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss.
Sources: NHS GMSCreated: 29 Jul 2020, 2:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotrichosis and recurrent skin vesicles MIM#613102
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Hypotrichosis and recurrent skin vesicles MIM#613102
- OMIM
- 600271
- Clinvar variants
- Variants in DSC3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
29 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dsc3 has been classified as Amber List (Moderate Evidence).
29 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dsc3 has been classified as Amber List (Moderate Evidence).
29 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DSC3 was added gene: DSC3 was added to Hair disorders. Sources: NHS GMS Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSC3 were set to 19765682; 31790667; 18682494 Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles MIM#613102 Review for gene: DSC3 was set to AMBER