SPRED2

sprouty related EVH1 domain containing 2
OMIM: 609292, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SPRED2 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • developmental delay
  • intellectual disability
  • cardiac defects
  • short stature
  • skeletal anomalies
  • a typical facial gestalt
Green SPRED2 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPRED2-related Noonan syndrome
    Green SPRED2 in Growth failure in early childhood


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • developmental delay
    • intellectual disability
    • cardiac defects
    • short stature
    • skeletal anomalies
    • a typical facial gestalt
    Green SPRED2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • developmental delay
    • intellectual disability
    • cardiac defects
    • short stature
    • skeletal anomalies
    • a typical facial gestalt
    Green SPRED2 in RASopathies

    Level 3: RASopathies
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.78

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • developmental delay
    • intellectual disability
    • cardiac defects
    • short stature
    • skeletal anomalies
    • a typical facial gestalt
    Green SPRED2 in Paediatric or syndromic cardiomyopathy


    Version 3.43
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • developmental delay
    • intellectual disability
    • cardiac defects
    • short stature
    • skeletal anomalies
    • a typical facial gestalt