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Mendeliome

Gene: DSG3

Amber List (moderate evidence)

DSG3 (desmoglein 3)
EnsemblGeneIds (GRCh38): ENSG00000134757
EnsemblGeneIds (GRCh37): ENSG00000134757
OMIM: 169615, Gene2Phenotype
DSG3 is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 families with biallelic variants & LoF variants (nonsense & deletion). Supporting mouse model.
Created: 28 Feb 2025, 8:20 a.m. | Last Modified: 28 Feb 2025, 8:20 a.m.
Panel Version: 1.2322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Blistering, acantholytic, of oral and laryngeal mucosa MONDO:0030986

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*).
Sources: Expert list
Created: 11 Aug 2020, 2:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
OMIM
169615
Clinvar variants
Variants in DSG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2025, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DSG3 were set to 30528827

28 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dsg3 has been classified as Amber List (Moderate Evidence).

11 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DSG3 were changed from Mucosal blistering to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226

11 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dsg3 has been classified as Red List (Low Evidence).

11 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DSG3 was added gene: DSG3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSG3 were set to 30528827 Phenotypes for gene: DSG3 were set to Mucosal blistering Review for gene: DSG3 was set to RED