SLC2A1

solute carrier family 2 member 1
OMIM: 138140, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Green SLC2A1 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.30

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 1.76

review Unknown
Sources
  • Expert Review Amber
  • Expert list

Green SLC2A1 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.66

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 1.93

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 2.65
Latest signed off version: v2.64 (16 Dec 2021)

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 2.67
    Latest signed off version: v2.2 (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 1.232

    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 1.84

    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 1.15
    Latest signed off version: v1.14 (16 Dec 2021)

    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 1.235

    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 1.18
    Latest signed off version: v1.2 (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 1.24
    Latest signed off version: v1.23 (16 Dec 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • 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 Hereditary spastic paraplegia - childhood onset


    Version 2.37
    Latest signed off version: v2.36 (16 Dec 2021)

    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 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    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 1.450

    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 2.105
    Latest signed off version: v2.104 (16 Dec 2021)

    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 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    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 2.21
    Latest signed off version: v2.2 (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 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    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 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    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 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    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 1.52
    Latest signed off version: v1.3 (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 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    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 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    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 1.66

    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

    Green SLC2A1 in NewbornFullV1


    Version 0.1

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green