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Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Marked gene: PKP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Classified gene: PKP1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 PKP1 Ain Roesley gene: PKP1 was added
gene: PKP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PKP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PKP1 were set to 32248567
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome (MIM#604536)
Penetrance for gene: PKP1 were set to unknown
Review for gene: PKP1 was set to GREEN
Added comment: PMID: 32248567
- 16 out of 18 probands presented with PPK
Sources: Literature