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  3. EIF4G1
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Adult onset neurodegenerative 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

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Created: 23 Jul 2019, 3:51 p.m.
Last Modified: 23 Jul 2019, 3:51 p.m.
Panel version: 1.106

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Multiple families with Parkinson disease associated with gene.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

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

Phenotypes
Parkinsons disease 18, 614251

Publications

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Details

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

History Filter Activity

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: EIF4G1 were changed from Parkinsons disease 18, 614251 to {Parkinsons disease 18}, OMIM:614251

20 Sep 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to EIF4G1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Jul 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene EIF4G1 were changed from to 21907011

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to EIF4G1.

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to EIF4G1.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: EIF4G1 was added gene: EIF4G1 was added to Neurodegenerative disorders - adult onset. 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