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| Epidermolysis bullosa and congenital skin fragility v1.53 | DSG3 | Arina Puzriakova commented on gene: DSG3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.52 | DSG3 |
Arina Puzriakova Source Expert Review Red was added to DSG3. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Epidermolysis bullosa and congenital skin fragility v1.46 | DSG3 | Ivone Leong Phenotypes for gene: DSG3 were changed from mucosal fragility to Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.3 | DSG3 | Zornitza Stark reviewed gene: DSG3: Rating: RED; Mode of pathogenicity: None; Publications: 30528827; Phenotypes: Mucosal blistering; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.16 | DSG3 | Catherine Snow Publications for gene: DSG3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.15 | DSG3 |
Catherine Snow changed review comment from: Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous. DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. PMID: 16403096 Capon et al provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group PMID: 19678820 concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs.; to: Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous. DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. Capon et al (PMID: 16403096) provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group (PMID: 19678820) concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs. |
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| Epidermolysis bullosa and congenital skin fragility v0.15 | DSG3 |
Catherine Snow edited their review of gene: DSG3: Added comment: Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous. DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. PMID: 16403096 Capon et al provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group PMID: 19678820 concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs.; Changed publications: PMID: 30528827, PMID: 16403096, PMID: 19678820 |
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| Epidermolysis bullosa and congenital skin fragility v0.15 | DSG3 | Catherine Snow reviewed gene: DSG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.14 | DSG3 |
Catherine Snow Source Expert Review Amber was added to DSG3. Mode of inheritance for gene DSG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Epidermolysis bullosa and congenital skin fragility v0.11 | DSG3 | John McGrath reviewed gene: DSG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.10 | DSG3 |
Rebecca Foulger gene: DSG3 was added gene: DSG3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: NHS GMS Mode of inheritance for gene: DSG3 was set to Phenotypes for gene: DSG3 were set to mucosal fragility |
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