RSPO1

R-spondin 1
OMIM: 609595, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RSPO1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644
  • Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644

Green RSPO1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644
  • Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644

Green RSPO1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644
  • Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644