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Palmoplantar Keratoderma and Erythrokeratoderma v0.60 | SASH1 | Zornitza Stark Marked gene: SASH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 | SASH1 | Zornitza Stark Gene: sash1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 | SASH1 | Zornitza Stark Classified gene: SASH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 | SASH1 | Zornitza Stark Gene: sash1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 | SASH1 |
Paul De Fazio gene: SASH1 was added gene: SASH1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: SASH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASH1 were set to 25315659 Phenotypes for gene: SASH1 were set to Dyschromatosis universalis hereditaria 1 (MIM#127500) Review for gene: SASH1 was set to RED gene: SASH1 was marked as current diagnostic Added comment: Associated with Dyschromatosis universalis hereditaria 1 (MIM#127500). One family reported with biallelic variants in SASH1 who had palmoplantar keratoderma (among other phenotypes), but this is the only report of palmoplantar keratoderma associated with variants in this gene that I can find. Sources: Literature |