1. Panels
  2. Structural eye disease
  3. EFTUD2
Genes in panel
Prev Next
STRs in panel
Prev Next

Structural eye disease

Gene: EFTUD2

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

DB Deml: one family plus zebrafish model
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type, 610536

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Deml: one family plus zebrafish model
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type, 610536

Publications

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type, 610536
OMIM
603892
Clinvar variants
Variants in EFTUD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: EFTUD2 was changed from mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Apr 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: EFTUD2 was added gene: EFTUD2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: EFTUD2 was set to mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFTUD2 were set to 26118977 Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, 610536