Brain channelopathy
Gene: SLC2A1Comment when marking as ready: added the 'treatable' tag. changed complete penetrance to incompleteCreated: 18 Jan 2017, 3:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; DYSTONIA 9; Stomatin-deficient cryohydrocytosis with neurologic defects; epilepsy
Publications
Comment on mode of inheritance: Source: OMIM and our gene panels.Created: 10 Jun 2016, 3:43 p.m.
Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 3:19 p.m.
This gene has been classified as Green List (High Evidence).
Promoted to V1. January 23 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC2A1 were set to paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 DEFICIENCY SYNDROME 1; dystonia 9
Phenotypes for SLC2A1 were set to paroxysmal exertion-induced dyskinesia; GLUT1 DEFICIENCY SYNDROME 2; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; GLUT1 DEFICIENCY SYNDROME 1; dystonia 9
Publications for SLC2A1 were set to 19630075; 18451999; 18577546
Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME 2; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; GLUT1 DEFICIENCY SYNDROME 1; paroxysmal exertion-induced dyskinesia
This gene has been classified as Green List (High Evidence).
SLC2A1 was added to Brain channelopathypanel. Sources: UKGTN