1. Genes and Genomic Entities
  2. RSPO2

RSPO2

R-spondin 2
OMIM: 610575, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber RSPO2 in Limb disorders


Level 2: Musculoskeletal
Version 9.21
Latest signed off version: v9.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • 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
    Tags
    • Q4_26_promote_green
    Amber RSPO2 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 10.38
    Latest signed off version: v10.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • 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
    Tags
    • Q4_26_promote_green
    Green RSPO2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.32
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Tetraamelia syndrome 2, OMIM:618021
    Green RSPO2 in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Tetra-amelia with lung agenesis
    Amber RSPO2 in Clefting


    Level 2: Musculoskeletal
    Version 7.33
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    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
    Tags
    • Q4_26_promote_green