Adult onset neurodegenerative disorder
Gene: EIF4G1
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 AmberCreated: 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
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
Phenotypes for gene: EIF4G1 were changed from Parkinsons disease 18, 614251 to {Parkinsons disease 18}, OMIM:614251
Source Expert Review Amber was added to EIF4G1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Publications for gene EIF4G1 were changed from to 21907011
Source NHS GMS was added to EIF4G1.
Source Yorkshire and North East GLH was added to EIF4G1.
Rebecca Foulger: Gene awaiting curator evaluati
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