1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. EIF4G1
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: EIF4G1

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.50

Emily Jones (North Bristol NHS Trust)

I don't know

Was proposed to be causative of PD. However variants have also been detected in normal individuals. May be benign polymorphisms, but can't exclude very late onset/incomplete penetrance
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Parkinsons disease 18, 614251

Publications

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Parkinsons disease 18, 614251
OMIM
600495
Clinvar variants
Variants in EIF4G1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: eif4g1 has been classified as Amber List (Moderate Evidence).

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Parkinsons disease 18, 614251 for gene: EIF4G1 Publications for gene EIF4G1 were changed from to 25368108

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to EIF4G1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to EIF4G1.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: EIF4G1 was added gene: EIF4G1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: EIF4G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EIF4G1 were set to Parkinsons disease 18, 614251