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| Palmoplantar Keratoderma and Erythrokeratoderma v0.91 | CYP4F22 | Zornitza Stark Marked gene: CYP4F22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.91 | CYP4F22 | Zornitza Stark Gene: cyp4f22 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.91 | CYP4F22 | Zornitza Stark Classified gene: CYP4F22 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.91 | CYP4F22 | Zornitza Stark Gene: cyp4f22 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v0.88 | CYP4F22 |
Paul De Fazio changed review comment from: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family. Sources: Literature; to: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK (PMID: 18034255). OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family. Sources: Literature |
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| Palmoplantar Keratoderma and Erythrokeratoderma v0.88 | CYP4F22 |
Paul De Fazio gene: CYP4F22 was added gene: CYP4F22 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP4F22 were set to 16436457; 18034255; 32069299 Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5 MIM#604777 Review for gene: CYP4F22 was set to AMBER gene: CYP4F22 was marked as current diagnostic Added comment: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family. Sources: Literature |
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