Disorders of sex development
Gene: RSPO1
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least three homozygous variants reported. Involvement in oogonia differentiation and entry into meiosis demonstrated in mice (PMID 21991325)Created: 20 Sep 2016, 2:32 p.m.
Comment on mode of inheritance: Three independent reports of homozygous variantsCreated: 13 Sep 2016, 9:25 a.m.
Usually cause 46,XX testicular DSD but may be found with ovotestes. To date, associated with skin changes but natural history unclear and still rare. Sex limited effects for the gonad, although skin can affect both sexes.Created: 4 Feb 2016, 4:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
46,XX testicular DSD or ovotestes with palmarplantar hyperkeratoderma and predisposition to skin tumors
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Publications for RSPO1 were set to 17041600; 18085567; 21991325
This gene has been classified as Amber List (Moderate Evidence).
Publications for RSPO1 were set to 17041600; 18085567
Phenotypes for RSPO1 were set to Palmoplantar hyperkeratosis and true hermaphroditism 610644; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 610644
Mode of inheritance for RSPO1 was changed to BIALLELIC, autosomal or pseudoautosomal
RSPO1 was added to Disorders of sex developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Other
RSPO1 was added to Disorders of sex developmentpanel. Sources: UKGTN
RSPO1 was added to Disorders of sex developmentpanel. Sources: UKGTN
RSPO1 was created by ellenmcdonagh