SLC2A1

solute carrier family 2 member 1
OMIM: 138140, Gene2Phenotype

24 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 24 panels
Green SLC2A1 in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.48	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list 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 myotonia dystonia
Amber SLC2A1 in COVID-19 research Level 2: Viral research Version 1.146	review	Unknown	Sources Expert Review Amber Expert list
Green SLC2A1 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia EPILEPSY, IDIOPATHIC GENERALIZED GLUT1 DEFICIENCY SYNDROME 1 dystonia 9 Tags treatable
Green SLC2A1 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Dystonia GLUT1 deficiency syndrome 1, 606777 GLUT1 deficiency syndrome 2, childhood onset GLUT1 deficiency syndrome 1, infantile onset, severe GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 2
Green SLC2A1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 SLC2A1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects 608885
Green SLC2A1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN 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 SLC2A1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature BRIDGE consortium (NIHRBR-RD) Phenotypes Stomatocytosis Pyridoxine-refractory sideroblastic anemia
Green SLC2A1 in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH 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 SLC2A1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay seizure paroxysmal choreoathetosis spastic paraplegia autosomal dominant, complicated hereditary spastic paraplegia (HSP)
Green SLC2A1 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia Pyridoxine-refractory sideroblastic anemia 608885 Stomatin-deficient cryohydrocytosis with neurologic defects Stomatocytosis
Red SLC2A1 in Skeletal muscle channelopathy Level 2: Neurology Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847 GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777 GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Green SLC2A1 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Green Literature Phenotypes spastic paraplegia seizure Dystonia 9, 601042 Developmental delay paroxysmal choreoathetosis
Red SLC2A1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes GLUT1 DEFICIENCY SYNDROME 1 dystonia 9 GLUT1 deficiency syndrome 1, infantile onset, severe EPILEPSY, IDIOPATHIC GENERALIZED Dystonia GLUT1 deficiency syndrome 2, childhood onset GLUT1 deficiency syndrome 1, 606777 paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 2 spastic paraplegia
Green SLC2A1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport) Cataracts Early onset dystonia Epileptic encephalopathy Familial Genetic Generalised Epilepsies Hereditary ataxia Intellectual disability
Green SLC2A1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS 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
Red SLC2A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 GLUT1 DEFICIENCY SYNDROME TYPE 1
Green SLC2A1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 612126 GLUT1 DEFICIENCY SYNDROME TYPE 1 606777
Green SLC2A1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Expert Expert Review Green 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 Tags treatable
Green SLC2A1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen 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 SLC2A1 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 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 Tags treatable
Amber SLC2A1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885
Green SLC2A1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 9, OMIM:601042 GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777 GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Green SLC2A1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH 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

SLC2A1

24 panels

Green SLC2A1 in Skeletal Muscle Channelopathies

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Phenotypes

Amber SLC2A1 in COVID-19 research

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Green SLC2A1 in Brain channelopathy

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Phenotypes

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Green SLC2A1 in Early onset dystonia

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Green SLC2A1 in Ataxia and cerebellar anomalies - narrow panel

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Green SLC2A1 in Bilateral congenital or childhood onset cataracts

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Green SLC2A1 in Hereditary ataxia

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Green SLC2A1 in Cytopenias and congenital anaemias

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Green SLC2A1 in Paroxysmal central nervous system disorders

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Green SLC2A1 in Hereditary spastic paraplegia

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Green SLC2A1 in Rare anaemia

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Red SLC2A1 in Skeletal muscle channelopathy

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Green SLC2A1 in Childhood onset hereditary spastic paraplegia

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Red SLC2A1 in Adult onset neurodegenerative disorder

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Green SLC2A1 in Undiagnosed metabolic disorders

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Green SLC2A1 in Likely inborn error of metabolism

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Red SLC2A1 in Fetal anomalies

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Green SLC2A1 in DDG2P

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Green SLC2A1 in Early onset or syndromic epilepsy

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Green SLC2A1 in Intellectual disability

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Green SLC2A1 in Hereditary ataxia with onset in adulthood

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Amber SLC2A1 in Structural eye disease

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Green SLC2A1 in Adult onset dystonia, chorea or related movement disorder

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Phenotypes

Green SLC2A1 in Childhood onset dystonia, chorea or related movement disorder

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Phenotypes