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Fetal anomalies

Gene: DSG1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

The recessive disorder is severe and potentially relevant to this panel, and congenital heart disease has been reported.

However, there are only two families reported with the severe presentation, additional case report identified with milder bi-allelic disease.
Created: 5 Jan 2022, 7:04 a.m. | Last Modified: 5 Jan 2022, 7:04 a.m.
Panel Version: 0.1854

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 5 Jan 2022, 7:04 a.m.
Last Modified: 5 Jan 2022, 7:04 a.m.
Panel version: 0.1854

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Congenital erythroderma with palmoplantar keratoderma, hypotrichosis and hyper-immunoglobulin E is characterised by congenital ichthyosiform erythroderma, palmoplantar keratoderma, failure to thrive, multiple allergies, increased serum immunoglobulin E levels, hypotrichosis, recurrent infections and other systemic abnormalities like metabolic wasting, malabsorption, esophagitis, cardiac defects, microcephaly and developmental delay.

Striate palmoplantar keratoderma (SPPK) features linear hyperkeratosis of the volar aspects of the fingers, extending onto the palms, as well as focal plantar keratoderma.

Several reported individuals for both conditions.
- 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.
- Hom c.2601_2602delAG in a boy with severe condition. Parents were carriers and both had mild palmoplantar keratoderma.

- 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*)
- 2 families in this report with 1 individual presenting with skin erosions and scaling homozygous for c.49–1G>A, (authors are calling it SAM syndrome).
Created: 5 Jan 2022, 2:03 a.m. | Last Modified: 5 Jan 2022, 2:03 a.m.
Panel Version: 0.1844

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

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

Created: 5 Jan 2022, 2:03 a.m.
Last Modified: 5 Jan 2022, 2:03 a.m.
Panel version: 0.1844

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)
OMIM
125670
Clinvar variants
Variants in DSG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2022, 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).

5 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DSG1 were changed from SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)

5 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSG1 were set to

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DSG1 was added gene: DSG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING