1. Panels
  2. Choanal atresia
  3. EFTUD2
STRs in panel
Prev Next
Regions in panel
Prev Next

Choanal atresia

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 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, choanal atresia is a feature.
Created: 25 Mar 2021, 10:25 a.m. | Last Modified: 25 Mar 2021, 10:25 a.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536

Publications

Created: 25 Mar 2021, 10:25 a.m.
Last Modified: 25 Mar 2021, 10:25 a.m.
Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type MIM#610536
  • MONDO:0012516
OMIM
603892
Clinvar variants
Variants in EFTUD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eftud2 has been classified as Green List (High Evidence).

25 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis, Guion-Almeida type 610536 to Mandibulofacial dysostosis, Guion-Almeida type MIM#610536; MONDO:0012516

25 Mar 2021, Gel status: 3

Added New Source, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Genomics England PanelApp was added to EFTUD2. Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 for gene: EFTUD2

25 Mar 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EFTUD2 was added gene: EFTUD2 was added to Choanal atresia. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFTUD2 were set to 22305528 Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536