GAD1 Chromosome 2
Glutamate decarboxylase 1
Upload your DNA to see your personal genotypes for variants in GAD1.
What This Gene Does
This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
GAD1-related disorder
Inborn genetic diseases
Hereditary spastic paraplegia
Developmental and epileptic encephalopathy 89
Key Variants
RS112737041
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, GAD1-related disorder, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
RS113638388
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
RS139531653
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases, GAD1-related disorder
Health Risk
RS141004978
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases
Health Risk
RS143058194
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, GAD1-related disorder
Health Risk
RS147201199
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
RS150841255
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases
Health Risk
RS180969459
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
RS201232271
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS34100397
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
RS34856125
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
RS35426017
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112737041 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, GAD1-related disorder, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS113638388 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS139531653 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases, GAD1-related disorder |
| RS141004978 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases |
| RS143058194 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, GAD1-related disorder |
| RS147201199 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS150841255 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases |
| RS180969459 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS201232271 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS34100397 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS34856125 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS35426017 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS45566933 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS766656844 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1189720963 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS1190356035 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS1575446166 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS2468338472 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS2468367688 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS1161418050 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS1181224255 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Developmental and epileptic encephalopathy 89, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS1702579715 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS1702611329 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS1702866781 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS2105795792 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS2105801986 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS745595462 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |
| RS774772554 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89 |