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Intellectual disability syndromic and non-syndromic

Gene: EIF2AK3

Green List (high evidence)

EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000172071
EnsemblGeneIds (GRCh37): ENSG00000172071
OMIM: 604032, Gene2Phenotype
EIF2AK3 is in 10 panels

1 review

Ken Lee Wan (Monash Health)

Green List (high evidence)

EIF2AK3 is associated with Wolcott-Rallison syndrome (MIM: 226980)

Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, intellectual disability and cardiovascular abnormalities (MIM: 226980).

Intellectual deficit/developmental delay is common and reported in at least 14 out of 30 patients from 19 families with EIF2AK3 variants (PMID: 20202148).
Created: 13 Sep 2024, 6:47 a.m. | Last Modified: 13 Sep 2024, 6:47 a.m.
Panel Version: 0.6219

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolcott-Rallison syndrome MONDO:0009192

Publications

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

History Filter Activity

24 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif2ak3 has been classified as Green List (High Evidence).

24 Sep 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: EIF2AK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

24 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: EIF2AK3 were set to

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF2AK3 was added gene: EIF2AK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2AK3 was set to Unknown