Previous symbols: GLUT1, GLUT, HTLVR, CSE. Aliases: DYT18, DYT9, GLUT-1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Childhood Absence Epilepsy | causative germline |
mechanism: Reduced GLUT1-Mediated Glucose Transport into Brain
|
| Epilepsy with Myoclonic Absences | causative | |
| Epilepsy with Myoclonic-Atonic Seizures | causative germline | |
| GLUT1 Deficiency Syndrome | causative germline |
mechanism: SLC2A1 Loss-of-Function Variant
subtype: Classic GLUT1 Deficiency Syndrome; GLUT1 DS with Paroxysmal Exertion-Induced Dyskinesia
animal model: Glut1 Rgsc200 ENU missense mouse; Glut1 haploinsufficient (GLUT-1+/-) mouse; Glut1-deficient mouse with AAV9-mediated Glut1 repletion
|
| Paroxysmal Dyskinesia | causative germline |
mechanism: GLUT1 Haploinsufficiency and Reduced Blood-Brain-Barrier Glucose Transport
subtype: PED
scoped to subtype: PED
|
| Jeavons Syndrome |
untyped
Associated
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| GLUT1 deficiency syndrome MONDO:0000188 | AD | Definitive 2019-04-17 |
GLUT1 Deficiency Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.