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


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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