| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.33 | DSC3 | Zornitza Stark Marked gene: DSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.33 | DSC3 | Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.33 | DSC3 | Zornitza Stark Classified gene: DSC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.33 | DSC3 | Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | DSC3 |
Ain Roesley gene: DSC3 was added gene: DSC3 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSC3 were set to 19765682; 20159115; 24690439; 31790667 Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles (MIM# 613102) Penetrance for gene: DSC3 were set to unknown Review for gene: DSC3 was set to AMBER Added comment: PMID: 19765682; - large family from Afghanistan with 4x affecteds with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation - homozygous for p.(Leu710*) However, Payne 2010 (PMID: 20159115) and Fine 2014 (PMID: 24690439) argued that no definitive clinical or histopathologic evidence of blistering was presented. This family's phenotype is more consistent with a different skin disorder known as keratosis pilaris, which is associated with follicular plugging on histology. PMID: 31790667; - 1x proband born to consanguineous Egyptian parents with unequivocal skin blistering and hypotrichosis. From 4 years of age, he started to develop blisters on his hands, feet, and knees, as well as at sites of trauma - homozygous for p.(Leu727*) - Immunofluorescence microscopy in patient’s skin revealed a complete absence of DSC3 labeling, consistent with nonsense-mediated RNA decay Sources: Literature |
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