Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Palmoplantar keratodermas v0.5 PNPLA1 Rebecca Foulger Source London North GLH was added to PNPLA1.
Palmoplantar keratodermas v0.4 PNPLA1 Rebecca Foulger reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.3 PNPLA1 Rebecca Foulger gene: PNPLA1 was added
gene: PNPLA1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to Autosomal recessive congenital ichthyosis