| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.31 | CDSN | Zornitza Stark Marked gene: CDSN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.31 | CDSN | Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.31 | CDSN | Zornitza Stark Classified gene: CDSN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.31 | CDSN | Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | CDSN |
Ain Roesley gene: CDSN was added gene: CDSN was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDSN were set to 23957618; 20691404; 21191406; 25473393 Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 (MIM#270300) Penetrance for gene: CDSN were set to unknown Review for gene: CDSN was set to GREEN Added comment: Also known as TypeB PMID: 23957618; 1x Caucasian female with homozygous p.(Gly142*) PMID: 20691404; 4x in a large consanguineous Roma family from Germany with homozygous p.(Lys59*) PMID: 21191406; 1x Jewish male from a consanguineous family with homozygous p.(Gly249Valfs40) PMID: 25473393; 1x japanese female from consanguineous family with homozygous p.(Ser453Asn) Sources: Literature |
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