Genomics England
GMS Panels
Panels
Genes and Entities

GLS

glutaminase
OMIM: 138280
PanelMode of inheritanceDetails
1 panel
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412, Developmental and epileptic encephalopathy 71, OMIM:618328, ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339