Genomics England
GMS Panels
Panels
Genes and Entities

RSPO1

R-spondin 1
OMIM: 609595
PanelMode of inheritanceDetails
3 panels
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Palmoplantar hyperkeratosis and true hermaphroditism 610644, Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 610644
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644, Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Palmoplantar keratoderma