Genomics England
GMS Panels
Panels
Genes and Entities

GOT2

glutamic-oxaloacetic transaminase 2
OMIM: 138150
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Malate-Aspartate Shuttle-Related Encephalopathy
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 82, OMIM:618721, Developmental and epileptic encephalopathy, 82, MONDO:0032880