Epidermolysis bullosa

Gene: DSG1

Green List (high evidence)

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

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 29229434
- Patient presented with palmoplantar keratoderma and skin fragility since infancy. Patient lacks allergies or metabolic wasting.
- Hom c.1892-2A>C, cDNA study using patient’s skin sample showed exon skipping resulting in frameshift and premature termination codon. Parents were carriers and not known to be affected.
Created: 10 Dec 2021, 1:14 a.m. | Last Modified: 10 Dec 2021, 1:14 a.m.
Panel Version: 1.1

Publications

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

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

skin blistering and/or fragility reported in 2 probands

PMID: 19558595;
- 40-yr old man presented with painful thickening of the skin on his palms and soles, hyperhidrosis and intermittent associated blistering, since childhood
- heterozygous p.(Arg144*)

PMID: 23974871;
(authors are calling it SAM syndrome)
- 2 families in this report with 1 individual presenting with skin erosions and scaling homozygous for c.49–1G>A
Sources: Literature
Created: 10 Aug 2020, 5:45 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)
  • Keratosis palmoplantaris striata I, AD (MIM# 148700)
OMIM
125670
Clinvar variants
Variants in DSG1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSG1 were set to 19558595; 23974871; 29229434

10 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSG1 were set to 19558595; 23974871

10 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dsg1 has been classified as Amber List (Moderate Evidence).

10 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dsg1 has been classified as Amber List (Moderate Evidence).

10 Aug 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: DSG1 was added gene: DSG1 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSG1 were set to 19558595; 23974871 Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700) Penetrance for gene: DSG1 were set to unknown Review for gene: DSG1 was set to AMBER