Multiple Epiphyseal Dysplasia
Gene: EIF2AK3EnsemblGeneIds (GRCh38): ENSG00000172071
EnsemblGeneIds (GRCh37): ENSG00000172071
OMIM: 604032, Gene2Phenotype
EIF2AK3 is in 11 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 )
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)
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)
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for EIF2AK3 were set to Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus; Wolcott-Rallison syndrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for EIF2AK3 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()EIF2AK3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: UKGTN
Added New Source
GEL ()EIF2AK3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services