Palmoplantar keratodermas
Gene: DSG2
DSG2 (desmoglein 2)
EnsemblGeneIds (GRCh38): ENSG00000046604
EnsemblGeneIds (GRCh37): ENSG00000046604
OMIM: 125671, Gene2Phenotype
DSG2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000046604
EnsemblGeneIds (GRCh37): ENSG00000046604
OMIM: 125671, Gene2Phenotype
DSG2 is in 10 panels
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: DSG2; 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
- 125671
- Clinvar variants
- Variants in DSG2
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Palmoplantar keratodermas
- Ichthyosis and erythrokeratoderma
- Hereditary neuropathy or pain disorder
- COVID-19 research
- Dilated Cardiomyopathy and conduction defects
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
History Filter Activity
18 Feb 2019, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to DSG2.
28 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: DSG2 was added gene: DSG2 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: DSG2 was set to Phenotypes for gene: DSG2 were set to Desmosomal disorders