Genomics England
GMS Panels
Panels
Genes and Entities

PKP1

plakophilin 1
OMIM: 601975
PanelMode of inheritanceDetails
3 panels
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/skin fragility syndrome, 604536, Ectodermal Dysplasia/Skin Fragility Syndrome
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/skin fragility syndrome, 604536, McGrath Syndrome, Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders