Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Marked gene: PKP1 as ready
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Gene: pkp1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Classified gene: PKP1 as Green List (high evidence)
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Gene: pkp1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.16 PKP1 Bryony Thompson gene: PKP1 was added
gene: PKP1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP1 were set to 26288439; 9326952
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome MIM#604536
Review for gene: PKP1 was set to GREEN
Added comment: Ectodermal dysplasia is a prominent feature of the condition. >3 cases reported.
Sources: Expert list