rs587777162, EEF1A2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.800 CausalMutation CLINVAR Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. 28911200 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.800 CausalMutation CLINVAR Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. 28378778 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.800 GeneticVariation UNIPROT Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. 28911200 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. 28378778 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. 26682508 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. 27441201 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. 24697219 2015
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation. 19636410 2009
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR eEF1A2 and neuronal degeneration. 19909265 2009
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.010 GeneticVariation BEFREE Children with mutations in this gene have developmental delay, epilepsy, intellectual disability and often autism; the most frequently occurring mutation is G70S. 28378778 2017
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
0.010 GeneticVariation BEFREE Until now, only one missense mutation (c.208G > A, p.Gly70Ser) in EEF1A2 has been reported in two independent patients with neurological disease. 24697219 2015