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  3. EEF2
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Hydrocephalus

Gene: EEF2

Green List (high evidence)
EEF2 (eukaryotic translation elongation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167658
EnsemblGeneIds (GRCh37): ENSG00000167658
OMIM: 130610, Gene2Phenotype
EEF2 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The 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
Created: 14 Mar 2022, 1:52 p.m.
Last Modified: 14 Mar 2022, 1:52 p.m.
Panel version: 2.127

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 20 Mar 2021, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
hydrocephaly

Publications

Created: 20 Mar 2021, 12:30 p.m.

Panel version: 2.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hydrocephaly
OMIM
130610
Clinvar variants
Variants in EEF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: EEF2.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to EEF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Mar 2021, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: EEF2.

20 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: eef2 has been classified as Amber List (Moderate Evidence).

20 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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