SPRED2:Ensemblv115

sprouty related EVH1 domain containing 2
OMIM: 609292, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SPRED2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Noonan syndrome 14, MIM# 619745

Green SPRED2 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Noonan syndrome 14, MIM# 619745

Amber SPRED2 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Noonan syndrome 14, MIM# 619745

Green SPRED2 in Growth failure


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Noonan syndrome 14, MIM# 619745