1. Panels
  2. Regression
  3. EEF2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Regression

Gene: EEF2

Red List (low evidence)
EEF2 (eukaryotic translation elongation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167658
EnsemblGeneIds (GRCh37): ENSG00000167658
OMIM: 130610, Gene2Phenotype
EEF2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported, adult onset disorder.
Created: 27 Dec 2019, 9:28 p.m. | Last Modified: 4 Mar 2021, 10:38 p.m.
Panel Version: 0.240

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 26

Publications

Created: 27 Dec 2019, 9:28 p.m.
Last Modified: 4 Mar 2021, 10:38 p.m.
Panel version: 0.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 26
OMIM
130610
Clinvar variants
Variants in EEF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eef2 has been classified as Red List (Low Evidence).

27 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26

27 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EEF2 were set to

27 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eef2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EEF2 was added gene: EEF2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EEF2 was set to Unknown