Genomics England
GMS Panels
Panels
Genes and Entities

EEF2

eukaryotic translation elongation factor 2
OMIM: 130610
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hydrocephalus, Neurodevelopmental disorder, macrocephaly
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
hydrocephaly