Epidermolysis bullosa
Gene: DSG3
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: 1.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Blistering, acantholytic, of oral and laryngeal mucosa MONDO:0030986
Publications
One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*).
Sources: Expert listCreated: 11 Aug 2020, 2:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Publications
Publications for gene: DSG3 were set to 30528827
Gene: dsg3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DSG3 were changed from Mucosal blistering to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Gene: dsg3 has been classified as Red List (Low Evidence).
gene: DSG3 was added gene: DSG3 was added to Epidermolysis bullosa. 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