1. Genes and Genomic Entities
  2. SPRED2

SPRED2

sprouty related EVH1 domain containing 2
OMIM: 609292, Gene2Phenotype

7 panels

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

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

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
Amber SPRED2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.157
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Noonan syndrome 14, OMIM:619745
Green SPRED2 in DDG2P


Version 6.426
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
    • SPRED2-related Noonan syndrome
    Green SPRED2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    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 1.87

    		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


    Level 2: Cardiology
    Version 7.98
    Latest signed off version: v7.0 (30 Apr 2025)

    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
    Green SPRED2 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Literature
    • Expert Review Green
    Phenotypes
    • Noonan syndrome 14, OMIM:619745