Multiple Epiphyseal Dysplasia
Gene: EIF2AK3Comment 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.
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
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
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
This gene has been classified as Red List (Low Evidence).
Phenotypes for EIF2AK3 were set to Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus; Wolcott-Rallison syndrome
Mode of inheritance for EIF2AK3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
EIF2AK3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: UKGTN
EIF2AK3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services