SLC2A1

solute carrier family 2 member 1
OMIM: 138140
PanelMode of inheritanceDetails
12 panels
R-numbers: R56
Signed-off version 3.12
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dystonia 9, OMIM:601042, GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777, GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia 9, 601042, GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, GLUT1 deficiency syndrome 2, childhood onset, 612126, Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
R-numbers: R31
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stomatin-deficient cryohydrocytosis with neurologic defects 608885
R-numbers: R57
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
GLUT1 deficiency syndrome 1, 606777, GLUT1 deficiency syndrome 2, childhood onset, dystonia 9, EPILEPSY, IDIOPATHIC GENERALIZED, GLUT1 deficiency syndrome 1, infantile onset, severe, Dystonia, paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia, GLUT1 deficiency syndrome 2
R-numbers: R61
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
spastic paraplegia, seizure, Dystonia 9, 601042, Developmental delay, paroxysmal choreoathetosis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
GLUT1 DEFICIENCY SYNDROME TYPE 2 612126, GLUT1 DEFICIENCY SYNDROME TYPE 1 606777
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia 9 601042 AD, GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR, GLUT1 deficiency syndrome 2, childhood onset 612126 AD, Stomatin-deficient cryohydrocytosis with neurologic defects 608885 AD, {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847
R-numbers: R54
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia, GLUT1 DEFICIENCY SYNDROME 1, dystonia 9, GLUT1 deficiency syndrome 2, 612126, GLUT1 deficiency syndrome 1, 606777, Dystonia 9, 601042, EPILEPSY, IDIOPATHIC GENERALIZED
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
GLUT1 deficiency syndrome 1, 606777, GLUT1 deficiency syndrome 2, 612126, {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847, Dystonia 9, 601042, GLUT1 DEFICIENCY SYNDROME TYPE 1 (GLUT1DS1)
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 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Early onset dystonia, Cataracts, Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport), Hereditary ataxia, Epileptic encephalopathy, Familial Genetic Generalised Epilepsies, GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, GLUT1 deficiency syndrome 2, childhood onset, 612126
R-numbers: R66
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
EPILEPSY, IDIOPATHIC GENERALIZED, Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), 601042, paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia, GLUT1 deficiency syndrome 2, childhood onset, 612126, GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia, Pyridoxine-refractory sideroblastic anemia, 608885 Stomatin-deficient cryohydrocytosis with neurologic defects, Stomatocytosis