SLC2A1

solute carrier family 2 member 1
OMIM: 138140, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green SLC2A1 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.24

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 1.70

review Unknown
Sources
  • Expert Review Amber
  • Expert list

Green SLC2A1 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.55

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 1.85

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


Version 2.31
Signed off v.2.23 on 8 Oct 2020

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 Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.17
    Signed off v.2.2 on 19 Feb 2020

    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 1.205

    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 1.78

    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


    Version 1.6
    Signed off v.1.2 on 27 Feb 2020

    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 1.217

    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


    Version 1.4
    Signed off v.1.2 on 3 Mar 2020

    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

    Green SLC2A1 in Skeletal muscle channelopathy


    Version 1.6
    Signed off v.1.2 on 2 Mar 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    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

    Green SLC2A1 in Hereditary spastic paraplegia - childhood onset


    Version 2.19
    Signed off v.2.18 on 8 Oct 2020

    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 Neurodegenerative disorders - adult onset


    Version 2.33
    Signed off v.2.31 on 8 Oct 2020

    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 1.431

    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 Inborn errors of metabolism


    Version 2.33
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.115
    Signed off v.1.92 on 21 Aug 2020

    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 2.12
    Signed off v.2.2 on 13 Feb 2020

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.225
    Signed off v.2.2 on 13 Feb 2020

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.568
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 - adult onset


    Version 2.17
    Signed off v.2.13 on 6 Oct 2020

    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


    Version 1.15
    Signed off v.1.3 on 4 Mar 2020

    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 movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    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
    • 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

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


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

    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

    Green SLC2A1 in Severe Paediatric Disorders


    Version 1.20

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
    • {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847
    • Dystonia 9, 601042
    • GLUT1 deficiency syndrome 2, childhood onset, 612126
    • GLUT1 deficiency syndrome 1, infantile onset, severe, 606777