Multiple Epiphyseal Dysplasia

Gene: EIF2AK3

Red List (low evidence)

EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000172071
EnsemblGeneIds (GRCh37): ENSG00000172071
OMIM: 604032, Gene2Phenotype
EIF2AK3 is in 13 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 5 Feb 2016, 3:50 p.m.
Comment on list classification: Confirmed DD gene for Wolcott-Rallison syndrome.
Created: 5 Feb 2016, 3:50 p.m.

Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )

Red List (low evidence)

In EIF2AK3-related Wolcott-Rallison syndrome the insulin dependency usually presents early in the neonatal or infantile period and is a key aspect of the phenotype (unlike MED).
Created: 2 Dec 2015, 11 a.m.

Mode of pathogenicity
Other

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Red List (low evidence)

This gene does not comprise part of panel of MED alone. It pertains to phenotypes that include neonatal or infancy onset of diabetes, and has not been reported without these.
Created: 2 Dec 2015, 10:59 a.m.

Mode of pathogenicity
Other

Michael Briggs (Newcastle University)

Red List (low evidence)

No published evidence that mutations in EIF2AK3 cause MED. Mutation in EIF2AK3 cause autosomal recessive Wolcott-Rallison syndrome. Features of Wolcott-Rallison syndrome do include multiple epiphyseal dysplasia along with a wide range of other symptoms.
Created: 14 Oct 2015, 12:49 p.m.

Mode of inheritance
Unknown

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
  • Wolcott-Rallison syndrome
OMIM
604032
Clinvar variants
Variants in EIF2AK3
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for EIF2AK3 were set to Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus; Wolcott-Rallison syndrome

5 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EIF2AK3 was changed to BIALLELIC, autosomal or pseudoautosomal

5 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

EIF2AK3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

EIF2AK3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services