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Genetic epilepsy syndromes

Gene: EEF1A2

Green List (high evidence)

EEF1A2 (eukaryotic translation elongation factor 1 alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000101210
EnsemblGeneIds (GRCh37): ENSG00000101210
OMIM: 602959, Gene2Phenotype
EEF1A2 is in 4 panels

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD MR 38 and AD EIEE 33. AD MR 38 is thought to be a less severe disorder with overlapping features seizures have been reported in 1/2 unrelated cases- Nakajima et al, 2015 - de novo het variants identifed - no funtional work done. AD EIEE 33 - De Ligt et al, 2012 - seizures at 4 months de novo het missense mutation, no functional work done. Veerameh et al, 2013 - seizures developed at 10 weeks - de novo het missense variant (same as prev reported), no functional work done. Not enough evidence to put on panel. Lam et al, 2016 (DDD project) - in this paper they say that 3 mutations have been reported previoulsy in 5 patients (G70S x3 - unrelated cases) and two other variants Glu122Lys and Asp252His - and another two cases with the Glu122Lys were reported in 2015. Here they discuss 7 cases each with a diff mutation - 5 of whixh are newly described and all assoc with epilepsy and ID - all missense and de novo - no functional work done.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 616409; Mental retardation , 616393

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in unrelated cases, together with supportive animal model (PMID: 28378778).
Created: 3 Sep 2018, 1:22 p.m.
Comment on mode of inheritance: Biallelic variants reported in mouse model.
Created: 3 Sep 2018, 1:11 p.m.

Zornitza Stark (Australian Genomics)

Both mono allelic and bi-allelic variants in this gene have been reported as causing neurodevelopmental phenotypes, including seizures, plus additional evidence from mouse model.
Created: 13 Aug 2018, 11:29 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 33, MIM#616409

Publications

Variants in this GENE are reported as part of current diagnostic practice

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 33 616409
OMIM
602959
Clinvar variants
Variants in EEF1A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to EEF1A2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to EEF1A2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Both mono allelic and bi-allel

3 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: eef1a2 has been classified as Green List (High Evidence).

3 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: eef1a2 has been classified as Green List (High Evidence).

3 Sep 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: EEF1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: eef1a2 has been classified as Green List (High Evidence).

3 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EEF1A2 were set to 23033978; 23647072; 28911200; 28378778; 27652284; 30109124

3 Sep 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: EEF1A2 were set to Epileptic encephalopathy, early infantile, 33 616409

3 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EEF1A2 were set to 23033978, 23647072, 28911200, 28378778, 27652284; 30109124

3 Sep 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: EEF1A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to EEF1A2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to EEF1A2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EEF1A2 was added to Genetic Epilepsy Syndromes panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

EEF1A2 was created by Sarah Leigh