| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.81 | PNPLA1 | Zornitza Stark Marked gene: PNPLA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.81 | PNPLA1 | Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.81 | PNPLA1 | Zornitza Stark Classified gene: PNPLA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.81 | PNPLA1 | Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | PNPLA1 |
Ain Roesley gene: PNPLA1 was added gene: PNPLA1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA1 were set to 30578701 Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10 (MIM#615024) Penetrance for gene: PNPLA1 were set to unknown Review for gene: PNPLA1 was set to GREEN Added comment: PMID: 30578701; - 19 consanguineous families with 13 unique variants - all had erythroderma, 12 had PPK Sources: Literature |
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