Gene: EFTUD2

Alternate names for this Gene: MFDGA|MFDM|SNRNP116|Snrp116|Snu114|U5-116KD

Gene Summary: This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: elongation factor Tu GTP binding domain containing 2

Type of Gene: protein-coding

rs1085307457 in EFTUD2 gene and Dysmorphic features PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 19921636 2009 Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

PMID 16760738 2006 A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.

PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 22305528 2012 Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

PMID 27670155 2017 Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

PMID 23239648 2013 """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype."

PMID 25735261 2015 Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

PMID 24470203 2014 Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

PMID 25790162 2016 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

PMID 24266672 2015 Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

PMID 26507355 2016 Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

PMID 26118977 2015 EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

PMID 23879989 2013 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

PMID 23188108 2012 EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

rs387906877 in EFTUD2 gene and Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate PMID 22305528 2012 Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

rs1555564006 in EFTUD2 gene and Multiple congenital anomalies PMID 26507355 2016 Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

PMID 25735261 2015 Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

PMID 25790162 2016 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

PMID 16760738 2006 A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.

PMID 22305528 2012 Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

PMID 24266672 2015 Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

PMID 23188108 2012 EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

PMID 23879989 2013 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

PMID 26118977 2015 EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 27670155 2017 Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

PMID 24470203 2014 Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 19921636 2009 Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

PMID 23239648 2013 """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype."