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DDG2P

Gene: EEF1A2

Amber List (moderate evidence)

EEF1A2 (eukaryotic translation elongation factor 1 alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000101210
EnsemblGeneIds (GRCh37): ENSG00000101210
OMIM: 602959, Gene2Phenotype
EEF1A2 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: activating
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • INFANTILE EPILEPTIC ENCEPHALOPATHY
OMIM
602959
Clinvar variants
Variants in EEF1A2
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: EEF1A2 was added gene: EEF1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EEF1A2 were set to 23647072 Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: EEF1A2 was set to Other - please provide details in the comments