Fetal anomalies
Gene: EFTUD2

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)

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, oesophageal atresia. More than 70 patients reported reviewed in PMID 26507355. Mouse model.
Created: 27 Mar 2021, 11:40 p.m. | Last Modified: 27 Mar 2021, 11:40 p.m.

Panel Version: 0.3553

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516

Publications

Created: 27 Mar 2021, 11:40 p.m.
Last Modified: 27 Mar 2021, 11:40 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3553

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536
Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516

OMIM

603892

Clinvar variants

Variants in EFTUD2

Penetrance

None

Publications

Panels with this gene