Palmoplantar keratodermas
Gene: DSC1
DSC1 (desmocollin 1)
EnsemblGeneIds (GRCh38): ENSG00000134765
EnsemblGeneIds (GRCh37): ENSG00000134765
OMIM: 125643, Gene2Phenotype
DSC1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000134765
EnsemblGeneIds (GRCh37): ENSG00000134765
OMIM: 125643, Gene2Phenotype
DSC1 is in 1 panel
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: DSC1; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Details
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Desmosomal disorders
- OMIM
- 125643
- Clinvar variants
- Variants in DSC1
- Penetrance
- None
- Panels with this gene
History Filter Activity
18 Feb 2019, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to DSC1.
28 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: DSC1 was added gene: DSC1 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: DSC1 was set to Phenotypes for gene: DSC1 were set to Desmosomal disorders