EEF2

eukaryotic translation elongation factor 2
OMIM: 130610, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green EEF2 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder macrocephaly hydrocephalus
Green EEF2 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder macrocephaly hydrocephalus
Green EEF2 in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, macrocephaly, hydrocephalus Spinocerebellar ataxia 26, MIM#609306
Red EEF2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 26
Green EEF2 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 Literature Phenotypes Neurodevelopmental disorder macrocephaly hydrocephalus
Red EEF2 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia 26
Green EEF2 in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Literature Phenotypes Neurodevelopmental disorder macrocephaly hydrocephalus