| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.85 | NIPAL4 | Zornitza Stark Marked gene: NIPAL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.85 | NIPAL4 | Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.85 | NIPAL4 | Zornitza Stark Classified gene: NIPAL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.85 | NIPAL4 | Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.76 | NIPAL4 |
Ain Roesley gene: NIPAL4 was added gene: NIPAL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NIPAL4 were set to 30578701 Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6 (MIM#612281) Penetrance for gene: NIPAL4 were set to unknown Review for gene: NIPAL4 was set to GREEN Added comment: PMID: 30578701; - 5 families all consanguineous with 3 unique variants - 4 have erythroderma and all 5 have PPK Sources: Literature |
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