| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.32 | CSTA | Zornitza Stark Marked gene: CSTA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.32 | CSTA | Zornitza Stark Gene: csta has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.32 | CSTA | Zornitza Stark Classified gene: CSTA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.32 | CSTA | Zornitza Stark Gene: csta has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | CSTA |
Ain Roesley gene: CSTA was added gene: CSTA was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTA were set to 23534700; 25400170; 21944047 Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 (MIM#607936) Penetrance for gene: CSTA were set to unknown Review for gene: CSTA was set to GREEN Added comment: PMID: 23534700; - large consanguineous Jordanian American pedigree with acral peeling skin syndrome (APSS) that affected 10 individuals over four generations. - homozygous for p(.Lys22*) PMID: 25400170; - 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmo plantar peeling of the skin - homozygous for p.(Arg58T*) PMID: 21944047; - 1x consanguineous family of Bedouin origin homoyzgous for c.67-2A>T -> minigene assays demonstrated skipping of the first 12 base pairs of exon 2 of CSTA - 1x consanguineous family Turkish origin homozygous for p.(Gln86*) Sources: Literature |
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