Hydrocephalus
Gene: EEF2The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 1:52 p.m. | Last Modified: 14 Mar 2022, 1:52 p.m.
Panel Version: 2.127
Comment on list classification: Promoting to amber with recommendation of a green rating at the next GMS review. 3 cases reported with macrocephaly associated with ventriculomegaly. Recommended for addition to the panel by Genomics England clinician.Created: 20 Mar 2021, 12:32 p.m. | Last Modified: 20 Mar 2021, 12:32 p.m.
Panel Version: 2.11
PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly (benign hydrocephaly)
Sources: LiteratureCreated: 20 Mar 2021, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
hydrocephaly
Publications
Tag Q2_21_rating was removed from gene: EEF2.
Source Expert Review Green was added to EEF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: EEF2.
Gene: eef2 has been classified as Amber List (Moderate Evidence).
gene: EEF2 was added gene: EEF2 was added to Hydrocephalus. Sources: Literature Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EEF2 were set to 33355653 Phenotypes for gene: EEF2 were set to hydrocephaly Review for gene: EEF2 was set to GREEN