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Intellectual disability

Gene: EEF1B2

Amber List (moderate evidence)

EEF1B2 (eukaryotic translation elongation factor 1 beta 2)
EnsemblGeneIds (GRCh38): ENSG00000114942
EnsemblGeneIds (GRCh37): ENSG00000114942
OMIM: 600655, Gene2Phenotype
EEF1B2 is in 2 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Ellen McDonagh (Genomics England Curator)

I don't know

Possible DD gene for mental retardation in Gene2Phenotype. Large deletion in this gene reported in PMID 21937992 in a family with non syndromic ID. PMID: 24188901 identified a 2q33.1-q34 deletion (7.8 Mb in size) containing 46 genes reported in a male adult with moderate ID which includes this gene.
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
deletions watchlist
OMIM
600655
Clinvar variants
Variants in EEF1B2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to EEF1B2. Panel: Intellectual disability Publications for gene EEF1B2 was set to ['21937992', '24188901']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EEF1B2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EEF1B2 was added to Intellectual disabilitypanel. Sources: Expert Review Red