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Mendeliome

Gene: EEF2

Green List (high evidence)

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

2 reviews

Eleanor Williams (Genomics England)

Green List (high evidence)

Provisionally associated with ?Spinocerebellar ataxia 26 #609306 (AD) in OMIM based on Hekman et al 2012 case.

PMID: 23001565 - Hekman et al 2012 - report a six-generation kindred of Norwegian ancestry with a late-onset pure cerebellar ataxia in which a heterozygous P596H substitution in eEF2 was found to segregate with the disease phenotype in 24 individuals and two currently asymptomatic individuals. Functional studies in yeast showed that the variant (P580H in the EFT2 gene in yeast) affected translational fidelity.

PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Created: 4 Mar 2021, 7:15 p.m. | Last Modified: 4 Mar 2021, 7:15 p.m.
Panel Version: 0.6552

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

Phenotypes
Spinocerebellar ataxia 26 MIM#609306

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotype reported in PMID 33355653 is distinct from the adult-onset SCA reported in PMID: 23001565. Evidence for association with SCA remains limited.
Created: 4 Mar 2021, 10:36 p.m. | Last Modified: 4 Mar 2021, 10:36 p.m.
Panel Version: 0.6563
Single family reported.
Created: 27 Dec 2019, 9:26 p.m. | Last Modified: 27 Dec 2019, 9:26 p.m.
Panel Version: 0.426

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder; macrocephaly; hydrocephalus

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder, macrocephaly, hydrocephalus
  • Spinocerebellar ataxia 26, MIM#609306
OMIM
130610
Clinvar variants
Variants in EEF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EEF2 were changed from Neurodevelopmental disorder; macrocephaly; hydrocephalus; Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder, macrocephaly, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306

4 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EEF2 were changed from Neurodevelopmental disorder, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder; macrocephaly; hydrocephalus; Spinocerebellar ataxia 26, MIM#609306

4 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EEF2 were changed from Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306

4 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EEF2 were changed from Spinocerebellar ataxia 26 to Spinocerebellar ataxia 26, MIM#609306

4 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EEF2 were set to 15732118; 23001565

4 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eef2 has been classified as Green List (High Evidence).

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