| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hair disorders v0.16 | DSC3 | Bryony Thompson Marked gene: DSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.16 | DSC3 | Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.16 | DSC3 | Bryony Thompson Classified gene: DSC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.16 | DSC3 | Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.15 | DSC3 |
Bryony Thompson gene: DSC3 was added gene: DSC3 was added to Hair disorders. Sources: NHS GMS Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSC3 were set to 19765682; 31790667; 18682494 Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles MIM#613102 Review for gene: DSC3 was set to AMBER Added comment: 2 unrelated cases reported with homozygous nonsense mutations. A conditional null allele in a mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss. Sources: NHS GMS |
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