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| Palmoplantar Keratoderma and Erythrokeratoderma v0.83 | CDSN | Zornitza Stark Marked gene: CDSN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.83 | CDSN | Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.83 | CDSN | Zornitza Stark Classified gene: CDSN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.83 | CDSN | Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | CDSN | Paul De Fazio edited their review of gene: CDSN: Changed rating: GREEN; Changed phenotypes: Peeling skin syndrome 1 MIM#270300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | CDSN |
Paul De Fazio gene: CDSN was added gene: CDSN was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDSN were set to 23957618; 22146835; 20691404; 21191406 Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300 gene: CDSN was marked as current diagnostic Added comment: Associated with peeling skin syndrome, affected individuals have skin peeling, hyperkeratosis and erythema. At least 4 unrelated individuals reported, all with LoF variants. Sources: Literature |
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