| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis v0.26 | CDSN | Zornitza Stark Marked gene: CDSN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.26 | CDSN | Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.26 | CDSN | Zornitza Stark Classified gene: CDSN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.26 | CDSN | Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.10 | CDSN |
Bryony Thompson gene: CDSN was added gene: CDSN was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDSN were set to 24794518; 18436651; 20691404; 21191406 Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma Review for gene: CDSN was set to GREEN Added comment: At least 3 unrelated families reported with biallelic/homozygous variants. Cdsn -/- mice died within several hours after birth with skin defects consistent with dehydration caused by defective skin barrier function. Sources: Expert list |
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