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  3. EFTUD2
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Skeletal dysplasia

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

2 reviews

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, 11:38 p.m. | Last Modified: 27 Mar 2021, 11:38 p.m.
Panel Version: 0.6934

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, 11:38 p.m.
Last Modified: 27 Mar 2021, 11:38 p.m.
Panel version: Imported from Mendeliome panel version 0.6934

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Exclusively de novo with few reports of gonadal mosaicism

Multiple PTCs reported - LOF
Created: 20 Mar 2020, 6:38 a.m. | Last Modified: 20 Mar 2020, 6:38 a.m.
Panel Version: 0.1795

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type 610536

Created: 20 Mar 2020, 6:38 a.m.
Last Modified: 20 Mar 2020, 6:38 a.m.
Panel version: Imported from Mendeliome panel version 0.1795

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
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 Dec 2019, 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 Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFTUD2 were set to 16760738; 22305528; 19334086 Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536