Combined Immunodeficiency
Gene: DSG1EnsemblGeneIds (GRCh38): ENSG00000134760
EnsemblGeneIds (GRCh37): ENSG00000134760
OMIM: 125670, Gene2Phenotype
DSG1 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
>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: OtherCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dsg1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dsg1 has been classified as Green List (High Evidence).
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