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Palmoplantar Keratoderma and Erythrokeratoderma v0.89 | MBTPS2 | Zornitza Stark Marked gene: MBTPS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 | MBTPS2 | Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 | MBTPS2 |
Ain Roesley gene: MBTPS2 was added gene: MBTPS2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to Olmsted syndrome, X-linked (MIM#300918); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); IFAP syndrome with or without BRESHECK syndrome (MIM#308205) Penetrance for gene: MBTPS2 were set to unknown Review for gene: MBTPS2 was set to GREEN Added comment: Palmoplantar keratoderma is a feature of keratosis follicularis spinulosa decalvans and Olmsted syndrome. Erythroderma is a feature of IFAP syndrome with or without BRESHECK syndrome. Sources: Literature |