Ataxia - paediatric
Gene: SLC2A1
Well established gene disease association.
Sources: Expert listCreated: 6 Feb 2021, 3:42 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Disorders of glucose transport
Reduced penetrance has been reported in several families with either GLUT1 deficiency syndrome or epilepsy, all carrying missense well established to be pathogenic in ClinVar (Weber et al. 2008, OMIM)
Missense variants have been reported for all conditions. No strong genotype-phenotype correlation, Leen WG, et al. (2010):
- Patients with missense had 79% ID, 63% movement disorders
- Patients with PTCs/ss had 26% ID, 88% movement disorders
LOF mechanism for all variant types
Mostly AD, AR has been reported in a few casesCreated: 18 Dec 2020, 2:35 a.m. | Last Modified: 18 Dec 2020, 2:35 a.m.
Panel Version: 0.5677
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, MIM#606777; Dystonia 9, MIM#601042; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: SLC2A1 was added gene: SLC2A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC2A1 were set to dystonia 9; GLUT1 deficiency syndrome 2, 612126; GLUT1 DEFICIENCY SYNDROME 1; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1, 606777; Dystonia 9, 601042; EPILEPSY, IDIOPATHIC GENERALIZED