Genomics England

sprouty related EVH1 domain containing 2

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPRED2-related Noonan syndrome
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	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 1.0	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 5.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt