SLC2A1 Chromosome 1
Solute carrier family 2 member 1
Upload your DNA to see your personal genotypes for variants in SLC2A1.
What This Gene Does
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
Gene Info
Gene Group
Solute carrier family 2
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000117394
Associated Conditions (34)
GLUT1 deficiency syndrome 1
autosomal recessive
Encephalopathy due to GLUT1 deficiency
Hereditary cryohydrocytosis with reduced stomatin
Childhood onset GLUT1 deficiency syndrome 2
Dystonia 9
Epilepsy
idiopathic generalized
susceptibility to
12
SLC2A1-related disorder
Inborn genetic diseases
Gastric cancer
Beckwith-Wiedemann syndrome
Intellectual disability
Seizure
Developmental disorder
See cases
Parkinsonian disorder
Paroxysmal dystonia
+14 more conditions
Key Variants
RS1064795363
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1
Health Risk
RS1085308009
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1
Health Risk
RS1181822928
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, SLC2A1-related disorder
Health Risk
RS1387242348
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, Inborn genetic diseases
Health Risk
RS139412383
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, Epilepsy
Health Risk
RS139492241
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, Inborn genetic diseases
Health Risk
RS140825318
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, Inborn genetic diseases
Health Risk
RS141619735
Conflicting classifications of pathogenicity
Hereditary cryohydrocytosis with reduced stomatin, Epilepsy, idiopathic generalized
Health Risk
RS1425773776
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, Encephalopathy due to GLUT1 deficiency
Health Risk
RS142986731
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, Beckwith-Wiedemann syndrome
Health Risk
RS143588685
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1
Health Risk
RS147249343
Conflicting classifications of pathogenicity
GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1
Health Risk
All Variants (346)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1643441930 | Health Risk | Likely pathogenic | SLC2A1-related disorder, SLC2A1-related disorder |
| RS1643479461 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, Childhood onset GLUT1 deficiency syndrome 2 |
| RS1643480923 | Health Risk | Likely pathogenic | Encephalopathy due to GLUT1 deficiency, Intellectual disability, Encephalopathy due to GLUT1 deficiency |
| RS1643481930 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2124445695 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS2124446193 | Health Risk | Likely pathogenic | — |
| RS2124446216 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2124446500 | Health Risk | Likely pathogenic | Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2124446605 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS2124448295 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS2124448826 | Health Risk | Likely pathogenic | Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2124449030 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome, GLUT1 deficiency syndrome |
| RS2124449089 | Health Risk | Likely pathogenic | Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2124450429 | Health Risk | Likely pathogenic | — |
| RS2124450794 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS2124450819 | Health Risk | Likely pathogenic | Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS2524989875 | Health Risk | Likely pathogenic | Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS2524989927 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS2524990045 | Health Risk | Likely pathogenic | Childhood onset GLUT1 deficiency syndrome 2, Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2524997712 | Health Risk | Likely pathogenic | — |
| RS2524997940 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS2524997975 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS2524998344 | Health Risk | Likely pathogenic | — |
| RS2524999434 | Health Risk | Likely pathogenic | Dystonia 9, Dystonia 9 |
| RS2525035112 | Health Risk | Likely pathogenic | SLC2A1-related disorder, SLC2A1-related disorder |
| RS752143706 | Health Risk | Likely pathogenic | — |
| RS771386274 | Health Risk | Likely pathogenic | Colon adenocarcinoma, Colon adenocarcinoma |
| RS773339124 | Health Risk | Likely pathogenic | Encephalopathy due to GLUT1 deficiency, Intellectual disability, Encephalopathy due to GLUT1 deficiency |
| RS780519584 | Health Risk | Likely pathogenic | Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS794727870 | Health Risk | Likely pathogenic | Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS796053249 | Health Risk | Likely pathogenic | — |
| RS796053263 | Health Risk | Likely pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, Inborn genetic diseases |
| RS80359821 | Health Risk | Likely pathogenic | — |
| RS80359823 | Health Risk | Likely pathogenic | Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1, autosomal recessive |
| RS80359824 | Health Risk | Likely pathogenic | Childhood onset GLUT1 deficiency syndrome 2, Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2 |
| RS1057518821 | Health Risk | Pathogenic | Cerebellar ataxia, Global developmental delay, Myoclonus |
| RS1057520545 | Health Risk | Pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, Childhood onset GLUT1 deficiency syndrome 2 |
| RS1057521066 | Health Risk | Pathogenic | Epilepsy, idiopathic generalized, susceptibility to |
| RS1064795152 | Health Risk | Pathogenic | — |
| RS113697235 | Health Risk | Pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS11537641 | Health Risk | Pathogenic | Hereditary cryohydrocytosis with reduced stomatin, Dystonia 9, Encephalopathy due to GLUT1 deficiency |
| RS1159593580 | Health Risk | Pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, Encephalopathy due to GLUT1 deficiency |
| RS121909739 | Health Risk | Pathogenic | Childhood onset GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 1, autosomal recessive |
| RS1259158687 | Health Risk | Pathogenic | Inborn genetic diseases, GLUT1 deficiency syndrome 1, autosomal recessive |
| RS1264369249 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1363752047 | Health Risk | Pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS1387203768 | Health Risk | Pathogenic | Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS139722450 | Health Risk | Pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive, GLUT1 deficiency syndrome 1 |
| RS1413339367 | Health Risk | Pathogenic | Inborn genetic diseases, GLUT1 deficiency syndrome 1, autosomal recessive |
| RS1431778557 | Health Risk | Pathogenic | Microcephaly, Abnormality of metabolism/homeostasis, Intellectual disability |