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  3. RSPO2
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Limb disorders

Gene: RSPO2

Red List (low evidence)
RSPO2 (R-spondin 2)
EnsemblGeneIds (GRCh38): ENSG00000147655
EnsemblGeneIds (GRCh37): ENSG00000147655
OMIM: 610575, Gene2Phenotype
RSPO2 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Sources: Literature
Created: 3 Nov 2026, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tetraamelia syndrome 2, OMIM:618021; tetraamelia syndrome 2, MONDO:0060732; ?Humerofemoral hypoplasia with radiotibial ray deficiency, OMIM:618022; humerofemoral hypoplasia with radiotibial ray deficiency, MONDO:0060733

Publications

Created: 3 Nov 2026, 11:24 a.m.

Panel version: 9.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Tetraamelia syndrome 2, OMIM:618021
  • tetraamelia syndrome 2, MONDO:0060732
  • ?Humerofemoral hypoplasia with radiotibial ray deficiency, OMIM:618022
  • humerofemoral hypoplasia with radiotibial ray deficiency, MONDO:0060733
OMIM
610575
Clinvar variants
Variants in RSPO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RSPO2 was added gene: RSPO2 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPO2 were set to 29769720; 32457899 Phenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, OMIM:618021; tetraamelia syndrome 2, MONDO:0060732; ?Humerofemoral hypoplasia with radiotibial ray deficiency, OMIM:618022; humerofemoral hypoplasia with radiotibial ray deficiency, MONDO:0060733 Review for gene: RSPO2 was set to GREEN