Genomics England
GMS Panels
Panels
Genes and Entities

EIF2AK3

eukaryotic translation initiation factor 2 alpha kinase 3
OMIM: 604032
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WOLCOTT-RALLISON SYNDROME 226980
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WOLCOTT-RALLISON SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolcott-Rallison syndrome, 226980, WOLCOTT-RALLISON SYNDROME (WRS)
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolcott-Rallison syndrome, OMIM:226980 (includes onset of diabetes in neonatal period/ early infancy)
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolcott-Rallison syndrome 226980, Wolcott-Rallison syndrome 226980