EFTUD2

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green EFTUD2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibulofacial dysostosis, Guion-Almeida type (MIM#610536 MONDO:0012516)
Green EFTUD2 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Green EFTUD2 in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Green EFTUD2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Green EFTUD2 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green EFTUD2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536
Green EFTUD2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green EFTUD2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Green EFTUD2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	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
Green EFTUD2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Mandibulofacial dysostosis with microcephaly
Green EFTUD2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE MFDGA
Green EFTUD2 in Choanal atresia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.6	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert Review Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mandibulofacial dysostosis, Guion-Almeida type MIM#610536 MONDO:0012516
Green EFTUD2 in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Red EFTUD2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536