SLURP1

secreted LY6/PLAUR domain containing 1
OMIM: 606119
PanelMode of inheritanceDetails
2 panels
R-numbers: R165
Signed-off version 1.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
keratosis palmoplantaris transgrediens, Diffuse palmoplantar keratoderma, palmoplantar keratoderma, Mal de Meleda (MDM), Meleda disease, 248300
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mal de Meleda