SLC2A1

solute carrier family 2 member 1
OMIM: 138140
PanelMode of inheritanceDetails
13 panels
R-numbers: R56
Signed-off version 1.14
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
EPILEPSY, IDIOPATHIC GENERALIZED, dystonia 9, GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, childhood onset, Dystonia, GLUT1 deficiency syndrome 1, infantile onset, severe, GLUT1 DEFICIENCY SYNDROME 1, GLUT1 deficiency syndrome 1, 606777, paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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
Green
in Cataracts
R-numbers: R31
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stomatin-deficient cryohydrocytosis with neurologic defects 608885
R-numbers: R57
Signed-off version 1.58
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
GLUT1 DEFICIENCY SYNDROME TYPE 2 612126, GLUT1 DEFICIENCY SYNDROME TYPE 1 606777
R-numbers: R59
Signed-off version 2.2
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 2.13
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
R-numbers: R61
Signed-off version 2.18
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
spastic paraplegia, seizure, Dystonia 9, 601042, Developmental delay, paroxysmal choreoathetosis
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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)
R-numbers: R66
Signed-off version 1.2
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 1.2
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
R-numbers: R76
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epilepsy, idiopathic generalized, susceptibility to, 12, 614847, Can resemble skeletal muscle channelopathy, GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant)., GLUT1 deficiency syndrome 2, childhood onset, 612126