SLURP1

secreted LY6/PLAUR domain containing 1
OMIM: 606119
PanelMode of inheritanceDetails
2 panels
R-numbers: R165
Signed-off version 2.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Meleda disease, OMIM:248300
R-numbers: R166
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mal de Meleda