EFTUD2

elongation factor Tu GTP binding domain containing 2
OMIM: 603892, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green EFTUD2 in Choanal atresia Level 3: Choanal anomalies Level 2: Skeletal disorders Version 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert Review Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536
Green EFTUD2 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes microcephaly, facial asymmetry, inner ear anomalies
Green EFTUD2 in Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Version 1.37	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Radboud University Medical Center, Nijmegen Eligibility statement exclusion criteria Expert list Phenotypes Bilateral Microtia 610536 Mandibulofacial dysostosis, Guion-Almeida type, 610536 Treacher Collins-like syndrome (mandibulofacial dysostosis) with microcephaly, microtia and malformations
Green EFTUD2 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South East RGC GSTT Viapath
Green EFTUD2 in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536
Green EFTUD2 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536
Green EFTUD2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
Green EFTUD2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536
Green EFTUD2 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE MFDGA
Green EFTUD2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536
Green EFTUD2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536 MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY MFDM
Amber EFTUD2 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536