GLUD1

glutamate dehydrogenase 1
OMIM: 138130
PanelMode of inheritanceDetails
4 panels
R-numbers: R144
Signed-off version 2.3
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinism-hyperammonemia syndrome, 606762, epilepsy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias), Hyperinsulinism-hyperammonemia syndrome, 606762