1. Genes and Genomic Entities
  2. SCUBE3

SCUBE3

signal peptide, CUB domain and EGF like domain containing 3
OMIM: 614708, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SCUBE3 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
    • short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
    Green SCUBE3 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
    • short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
    Green SCUBE3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
    • short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
    Green SCUBE3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SCUBE3-related developmental disorder
    Amber SCUBE3 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Amber
    Phenotypes
    • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
    • short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953