Genomics England
GMS Panels
Panels
Genes and Entities

GLUD1

glutamate dehydrogenase 1
OMIM: 138130
PanelMode of inheritanceDetails
4 panels
Green
in Congenital hyperinsulinism
R-numbers: R144
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinism-hyperammonemia syndrome, 606762, Hyperinsulinism, Dominant
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinism-hyperammonemia syndrome, 606762, epilepsy
Green
in Likely inborn error of metabolism
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 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias), Hyperinsulinism-hyperammonemia syndrome, 606762