EFTUD2 Chromosome 17
Elongation factor Tu GTP binding domain containing 2
Upload your DNA to see your personal genotypes for variants in EFTUD2.
What This Gene Does
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. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex|Translational GTPases"
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000108883
Associated Conditions (12)
Inborn genetic diseases
Mandibulofacial dysostosis-microcephaly syndrome
Global developmental delay
Seizure
Chromatinopathy
See cases
EFTUD2-related disorder
Papillary renal cell carcinoma type 1
Esophageal atresia/tracheoesophageal fistula
Mandibulofacial dysostosis
Hereditary syndromic Pierre Robin syndrome
Neurodevelopmental disorder
Key Variants
RS1064793395
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1219000676
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1382402264
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139206848
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mandibulofacial dysostosis-microcephaly syndrome, Inborn genetic diseases
Health Risk
RS141916105
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143040272
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144798973
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1451516304
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148202258
Conflicting classifications of pathogenicity
Health Risk
RS1555565772
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2050571775
Conflicting classifications of pathogenicity
Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
Health Risk
RS2145431518
Conflicting classifications of pathogenicity
Health Risk
All Variants (156)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2051032338 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2051113996 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2051147818 | Health Risk | Pathogenic | — |
| RS2051181820 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2145431661 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2145438293 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2145455397 | Health Risk | Pathogenic | — |
| RS2145460853 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2145473620 | Health Risk | Pathogenic | — |
| RS2145478542 | Health Risk | Pathogenic | — |
| RS2145487524 | Health Risk | Pathogenic | — |
| RS2145517131 | Health Risk | Pathogenic | — |
| RS2145532417 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2145558864 | Health Risk | Pathogenic | — |
| RS2508718162 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508718340 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508728134 | Health Risk | Pathogenic | — |
| RS2508740991 | Health Risk | Pathogenic | — |
| RS2508747614 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508747683 | Health Risk | Pathogenic | — |
| RS2508753938 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508762950 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508766687 | Health Risk | Pathogenic | — |
| RS2508783265 | Health Risk | Pathogenic | — |
| RS2508783361 | Health Risk | Pathogenic | See cases, See cases |
| RS2508819908 | Health Risk | Pathogenic | — |
| RS2508823272 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508827069 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508834526 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508834800 | Health Risk | Pathogenic | — |
| RS2508840177 | Health Risk | Pathogenic | Global developmental delay, Global developmental delay |
| RS2508866762 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS387906877 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS387906878 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS387906879 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS397515431 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS76519865 | Health Risk | Pathogenic | — |
| RS765835040 | Health Risk | Pathogenic | — |
| RS794729651 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS797045551 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS879253725 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS879253726 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS879253727 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS879253728 | Health Risk | Pathogenic | Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS886039349 | Health Risk | Pathogenic | Hereditary syndromic Pierre Robin syndrome, Mandibulofacial dysostosis-microcephaly syndrome, Hereditary syndromic Pierre Robin syndrome |
| RS886039467 | Health Risk | Pathogenic | — |
| RS886041831 | Health Risk | Pathogenic | — |
| RS996949678 | Health Risk | Pathogenic | See cases, Mandibulofacial dysostosis-microcephaly syndrome, Inborn genetic diseases |
| RS1085307457 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1256541161 | Health Risk | Pathogenic/Likely pathogenic | — |