DSG1
Synonym(s): CDHF4, DSG
Locus: 18q12.1
Protein: Desmoglein type 1
Disorders
- Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis and hyper IgE
- Keratosis Palmoplantaris Striata I, AD
Tests
| XomeDxSlice EB method(s): ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
| Skin Diseases Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
| DSG1 method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany |
| Ichthyoses and Related Disorders of Cornification Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
| Platelets, Coagulation Disorders Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
| DSG1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
| Hyper-IgE recurrent infection syndrome (Hyper-IgE Syndrom) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
| Keratosis palmoplantaris striata type 1 method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
| Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
| Epidermolysis Bullosa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
| Epidermolysis Bullosa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |