1. Panels
  2. Palmoplantar keratodermas
  3. DSG1
STRs in panel
Prev Next
Regions in panel
Prev Next

Palmoplantar keratodermas

Gene: DSG1

Green List (high evidence)
DSG1 (desmoglein 1)
EnsemblGeneIds (GRCh38): ENSG00000134760
EnsemblGeneIds (GRCh37): ENSG00000134760
OMIM: 125670, Gene2Phenotype
DSG1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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: DSG1; Suggested initial gene rating: Green; 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.

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
  • Congenital erythroderma with palmoplantar keratoderma
  • Desmosomal disorders
OMIM
125670
Clinvar variants
Variants in DSG1
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to DSG1.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DSG1 was added gene: DSG1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSG1 were set to Palmoplantar keratoderma; Congenital erythroderma with palmoplantar keratoderma; Desmosomal disorders