Epidermolysis bullosa
Gene: DSG3EnsemblGeneIds (GRCh38): ENSG00000134757
EnsemblGeneIds (GRCh37): ENSG00000134757
OMIM: 169615, Gene2Phenotype
DSG3 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- 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
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dsg3 has been classified as Red List (Low Evidence).
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 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