Date Panel Item Activity
3 actions
Palmoplantar keratodermas v0.5 GJB2 Rebecca Foulger Source London North GLH was added to GJB2.
Palmoplantar keratodermas v0.4 GJB2 Rebecca Foulger reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.3 GJB2 Rebecca Foulger gene: GJB2 was added
gene: GJB2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix