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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