Dystonia - complex
Gene: EIF2AK2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 33866603: further report of dystonia in a 3-generation family, same variant (p.Gly130Arg)
Created: 11 Jun 2021, 5:26 a.m. | Last Modified: 11 Jun 2021, 5:26 a.m.

Panel Version: 0.180

10 individuals reported with complex neurological phenotype including ataxia and spasticity.

Additional report in PMID 33236446 of same missense variant, p.Gly130Arg segregating with disease in 5 individuals from one family, and occurring de novo in another individual with prominent, early-onset dystonia. One more individual identified with a homozygous variant and dystonia. Some functional data to support variant pathogenicity. Three of the individuals had additional neurological features including ID.
Sources: Expert Review
Created: 7 Jan 2021, 3:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness; early onset dystonia

Publications

Created: 7 Jan 2021, 3:05 a.m.

Panel version: 0.180

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review

Phenotypes

Intellectual disability
white matter abnormalities
ataxia
regression with febrile illness
early onset dystonia

OMIM

176871

Clinvar variants

Variants in EIF2AK2

Penetrance

None

Publications

Panels with this gene