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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WOLCOTT-RALLISON SYNDROME 226980
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy)
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WOLCOTT-RALLISON SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolcott-Rallison syndrome, 226980, WOLCOTT-RALLISON SYNDROME (WRS)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolcott-Rallison syndrome 226980, Wolcott-Rallison syndrome 226980