Genomics England
GMS Panels
Panels
Genes and Entities

SPRED2

sprouty related EVH1 domain containing 2
OMIM: 609292
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPRED2-related Noonan syndrome
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 2.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Noonan syndrome 14, OMIM:619745
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 8.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt