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Intellectual disability

Gene: EIF2AK2

Amber List (moderate evidence)

EIF2AK2 (eukaryotic translation initiation factor 2 alpha kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000055332
EnsemblGeneIds (GRCh37): ENSG00000055332
OMIM: 176871, Gene2Phenotype
EIF2AK2 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 3 Aug 2020, 4:32 p.m. | Last Modified: 3 Aug 2020, 4:32 p.m.
Panel Version: 3.226
Association with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation reported in both OMIM and G2P (probable).

PMID: 32197074 (2020) - Distinct de novo missense variants were identified in eight unrelated individuals who all share a notable phenotypic overlap of developmental delay, cognitive impairment, white matter alterations, dysarthria or lack of speech, and neurologic regression with febrile illness. Other variable features included hypotonia (7/8), hypertonia (7/8), ataxia (6/8), dystonia (5/8), tremor (3/8) and seizures (4/8). Functional data confirm reduced kinase activity compared to the wildtype protein product, and authors predict a dominant-negative effect.
Created: 3 Aug 2020, 4:24 p.m. | Last Modified: 3 Aug 2020, 4:24 p.m.
Panel Version: 3.225

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Eight individuals with de novo variants and complex neurodevelopmental phenotype.
Sources: Literature
Created: 20 Apr 2020, 2:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • white matter abnormalities
  • ataxia
  • regression with febrile illness
Tags
for-review
OMIM
176871
Clinvar variants
Variants in EIF2AK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: eif2ak2 has been classified as Amber List (Moderate Evidence).

3 Aug 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: EIF2AK2.

20 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EIF2AK2 was added gene: EIF2AK2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness Review for gene: EIF2AK2 was set to GREEN gene: EIF2AK2 was marked as current diagnostic