Parkinson Disease and Complex Parkinsonism

Gene: EIF4G1

Red List (low evidence)

EIF4G1 (eukaryotic translation initiation factor 4 gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000114867
EnsemblGeneIds (GRCh37): ENSG00000114867
OMIM: 600495, Gene2Phenotype
EIF4G1 is in 4 panels

3 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

Monoallelic mutations have been described in PD, but the pathogenicity of EIF4G1 mutations is debated. The R1205H variant was reported in a family with 10 affected members and one sporadic Irish patient (Chartier-Harlin et al., 2011) (McCarthy, 2014). The A502V variant was found in two other sporadic PD patients (Chartier-Harlin et al., 2011). Subsequently number of studies identified R1205H in both patients and controls (Nuytemans et al., 2013; Dhungel et al., 2015; Nichols et al., 2015), suggesting that it is a benign poymorphism.
Created: 14 Dec 2016, 5:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Rebecca Foulger (Genomics England curator)

PMID:23462481 lists EIF4G1 as one of the 7 Mendelian genes, but there isn't conclusive evidence for a pathogenic role based on PMID:26022768 and 25368108.
Created: 10 Nov 2016, 4:26 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two founder mutations reported so far. PMID: 25368108 screened 2051 sporadic PD patients for the two reported variants, and sequenced the gene in 95 familial PD patients with autosomal-dominant inheritance. They state that their data do not support the EIF4G1 gene as a high-risk PD locus, neither for the familial nor the sporadic condition. And concude that caution should be exercised when interpreting EIF4G1 genotyping results in isolated patients and PD families, and diagnostic testing of EIF4G1 should not be recommended in clinical settings.
Created: 3 Nov 2016, 11:19 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinsons disease 18, 614251
OMIM
600495
Clinvar variants
Variants in EIF4G1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and further curation.

15 Dec 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EIF4G1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Oct 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EIF4G1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen

19 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EIF4G1 was created by ellenmcdonagh