Clefting disorders
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
EnsemblGeneIds (GRCh38): ENSG00000108883
EnsemblGeneIds (GRCh37): ENSG00000108883
OMIM: 603892, Gene2Phenotype
EFTUD2 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
- MFDGA
- OMIM
- 603892
- Clinvar variants
- Variants in EFTUD2
- Penetrance
- None
- Panels with this gene
-
- Pierre Robin Sequence
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Microcephaly
- Congenital Heart Defect
- Choanal atresia
- Mendeliome
- BabyScreen+ newborn screening
- Mandibulofacial Acrofacial dysostosis
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EFTUD2 was added gene: EFTUD2 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA