RSPO1

R-spondin 1
OMIM: 609595, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green RSPO1 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Palmoplantar hyperkeratosis and true hermaphroditism, 610644
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644
  • palmoplantar keratoderma
Green RSPO1 in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644
  • Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
Green RSPO1 in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
Green RSPO1 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Palmoplantar hyperkeratosis and true hermaphroditism 610644
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 610644