Genomics England

SLC2A1

solute carrier family 2 member 1

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 5.0	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
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 8.0	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
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects 608885
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 7.0	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
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 8.0	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 6.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 612126, GLUT1 DEFICIENCY SYNDROME TYPE 1 606777
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 8.0	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
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 8.0	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
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 9.0	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)
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 8.0	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
Green in Paroxysmal central nervous system disorders R-numbers: R66 Signed-off version 4.0	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