Paroxysmal central nervous system disorders
Gene: SLC2A1
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
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Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
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Episodic ataxiaCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
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Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), 601042
Variants in this GENE are reported as part of current diagnostic practice
Gene: slc2a1 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC2A1 were changed from EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1 to 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
Source NHS GMS was added to SLC2A1.
Source London North GLH was added to SLC2A1.
Source Wessex and West Midlands GLH was added to SLC2A1.
Added phenotypes EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1 for gene: SLC2A1
gene: SLC2A1 was added gene: SLC2A1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546 Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1