Combined Immunodeficiency

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated families reported with elevated IgE levels, and apparently only one case without elevated IgE. It's speculated that DSG1 deficiency generates impaired desmosome formation, abnormal differentiation, and acantholysis, resulting in compromised epidermal barrier function and exposing the immune system to abnormal stimulation.
Sources: Other
Created: 1 Mar 2021, 4:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE MIM#615508

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218
OMIM
125670
Clinvar variants
Variants in DSG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dsg1 has been classified as Green List (High Evidence).

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dsg1 has been classified as Green List (High Evidence).

10 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DSG1 was added gene: DSG1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSG1 were set to 23974871; 32126589; 29604126 Phenotypes for gene: DSG1 were set to severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218