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  3. EIF2AK2
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Dystonia - isolated/combined

Gene: EIF2AK2

Green List (high evidence)
EIF2AK2 (eukaryotic translation initiation factor 2 alpha kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000055332
EnsemblGeneIds (GRCh37): ENSG00000055332
OMIM: 176871, Gene2Phenotype
EIF2AK2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dystonia 33, MIM# 619687

Created: 26 Apr 2022, 8:58 a.m.
Last Modified: 26 Apr 2022, 8:58 a.m.
Panel version: 1.18

Eunice Chan (Royal Children's Hospital)

Green List (high evidence)

Mode of pathogenicity - Likely gain of function/ persistent activation of EIF2AK2-eIF2a pathway
Partial response to DBS
Sources: Expert Review
Created: 26 Apr 2022, 2:08 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
early onset, mostly isolated generalised dystonia; dysarthria; tremor

Publications

Mode of pathogenicity
Other

Created: 26 Apr 2022, 2:08 a.m.

Panel version: 1.18

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 33, MIM# 619687
OMIM
176871
Clinvar variants
Variants in EIF2AK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2ak2 has been classified as Green List (High Evidence).

26 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF2AK2 were changed from early onset, mostly isolated generalised dystonia; dysarthria; tremor to Dystonia 33, MIM# 619687

26 Apr 2022, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: EIF2AK2 was changed from Other to None

26 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2ak2 has been classified as Green List (High Evidence).

26 Apr 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Eunice Chan (Royal Children's Hospital)

gene: EIF2AK2 was added gene: EIF2AK2 was added to Dystonia - isolated/combined. Sources: Expert Review Mode of inheritance for gene: EIF2AK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EIF2AK2 were set to PMID: 35146068; PMID: 33236446; PMID: 33866603 Phenotypes for gene: EIF2AK2 were set to early onset, mostly isolated generalised dystonia; dysarthria; tremor Mode of pathogenicity for gene: EIF2AK2 was set to Other Review for gene: EIF2AK2 was set to GREEN