Differences in sex development
Gene: RSPO1

RSPO1 (R-spondin 1)
EnsemblGeneIds (GRCh38): ENSG00000169218
EnsemblGeneIds (GRCh37): ENSG00000169218
OMIM: 609595, Gene2Phenotype
RSPO1 is in 4 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Created: 29 Apr 2019, 9:46 a.m.

Panel version: 1.32

Sarah Leigh (Genomics England Curator)

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 variants
Created: 13 Sep 2016, 9:25 a.m.

Created: 13 Sep 2016, 9:25 a.m.

Panel version: 0.189

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

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

Created: 4 Feb 2016, 4:14 p.m.

Panel version: 0.47

Details

Mode of Inheritance

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

OMIM

609595

Clinvar variants

Variants in RSPO1

Penetrance

Complete

Publications

Panels with this gene