Hereditary ataxia - adult onsetGene: SLC2A1
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Haploinsufficiency is predominant pathogenic mechanism. Note rare cases of apparent AR inheritance of missense variants reported in the lit (see PMID in publications)
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia 9, 601042, GLUT1 deficiency syndrome 1, 606777, GLUT1 deficiency syndrome 2, 612126
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Dystonia 9, 601042; GLUT1 deficiency syndrome 2, 612126; GLUT1 deficiency syndrome 1, 606777 for gene: SLC2A1
Source NHS GMS was added to SLC2A1.
Source Wessex and West Midlands GLH was added to SLC2A1.
Checked panel against panel constituents. Ready to promote to version 1.
Tag treatable tag was added to gene: SLC2A1.
gene: SLC2A1 was added gene: SLC2A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, 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