Paroxysmal central nervous system disorders
Gene: EIF3GEnsemblGeneIds (GRCh38): ENSG00000130811
EnsemblGeneIds (GRCh37): ENSG00000130811
OMIM: 603913, Gene2Phenotype
EIF3G is in 2 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Insufficient evidenceCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
Unknown
Phenotypes
Narcolepsy
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Narcolepsy
- OMIM
- 603913
- Clinvar variants
- Variants in EIF3G
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: eif3g has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to EIF3G.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to EIF3G.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to EIF3G.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Narcolepsy for gene: EIF3G
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: EIF3G was added gene: EIF3G was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: EIF3G was set to Unknown Publications for gene: EIF3G were set to 25669430 Phenotypes for gene: EIF3G were set to Narcolepsy