| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.29 | CAST | Zornitza Stark Marked gene: CAST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.29 | CAST | Zornitza Stark Gene: cast has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.29 | CAST | Zornitza Stark Classified gene: CAST as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.29 | CAST | Zornitza Stark Gene: cast has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | CAST |
Ain Roesley gene: CAST was added gene: CAST was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAST were set to 25683118 Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295) Penetrance for gene: CAST were set to unknown Review for gene: CAST was set to GREEN Added comment: PMID: 25683118; 1x Chinese proband from a consanguineous family. She presented with trauma-induced recurrent blistering prominently on the extremities since infancy, which was worse in summer. In winter, asymptomatic skin peeling was more prominent . Homozygous for c.607dup; p.(Ile203Asnfs*8) -> RT-PCR of mRNA from this patient's skin demonstrated NMD - 1x Nepalese proband from non-consanguineous parents with history of painful lesions on the palms and soles. Homozygous for c.424A>T ; p.(Lys142*) - 1x European sibling pair with history of blistering and peeling of skin. Homozygous for c.1750delG p.(*Val584Trpfs*37) Sources: Literature |
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