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Fetal anomalies v0.891 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Fetal anomalies v0.891 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.891 EEF2 Zornitza Stark Classified gene: EEF2 as Green List (high evidence)
Fetal anomalies v0.891 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.886 EEF2 Krithika Murali gene: EEF2 was added
gene: EEF2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus
Review for gene: EEF2 was set to GREEN
Added comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature, Expert list