Severe microcephaly

Gene: EFTUD2

Green List (high evidence)

EFTUD2 (elongation factor Tu GTP binding domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000108883
EnsemblGeneIds (GRCh37): ENSG00000108883
OMIM: 603892, Gene2Phenotype
EFTUD2 is in 12 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Good amount of supportive literature. Recognised on G2P
Created: 12 Jan 2017, 9:33 a.m.
Most patients are microcephalic. Recognised on G2P
Created: 12 Jan 2017, 9:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type 610536

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type 610536
OMIM
603892
Clinvar variants
Variants in EFTUD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

EFTUD2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen,Literature

12 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

EFTUD2 was created by agardham