| Syndrome |
Gene |
Chromosome |
Location |
Category |
| GABA-transaminase deficiency | ABAT | 16 | p13.2 | Epilepsy and seizures | |
| GABRIELE-DE VRIES SYNDROME | GADEVS | 14 | q32.2 | Autism spectrum | |
| Galactosemia (type I) | GALT | 9 | p13.3 | Galactosemia | |
| Galactosemia (type II) | GALK1 | 17 | q25.1 | Galactosemia | |
| Galactosemia (type III) | GALE | 1 | p36.11 | Galactosemia | |
| Galactosialidosis | CTSA | 20 | q13.12 | Ataxia spectrum | |
| GAMMA-AMINOBUTYRIC ACID RECEPTOR ALPHA-5 | GABRA5 | 15 | q12 | Autism spectrum | |
| GAMMA-AMINOBUTYRIC ACID RECEPTOR GAMMA-3 | GABRG3 | 15 | q12 | Autism spectrum | |
| gamma-Glutamyltransferase deficiency | GGT1 | 11 | q11.23 | Polymorphous light eruption | |
| gamma-Glutamyltransferase deficiency | GSR | 8 | p12 | Polymorphous light eruption | |
| GASTRIN-RELEASING PEPTIDE RECEPTOR | GRPR | 23 | p22.2 | Autism spectrum | |
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9 | GEFSP9 | 16 | p11.2 | Autism spectrum | |
| Generalized thyroid hormone resistance | THRB | 3 | p24.2 | Tachycardia (>100 beats/minute) | |
| Genetic epilepsy with febrile seizures plus | GABRD | 1 | p36.33 | Epilepsy and seizures | |
| Genetic epilepsy with febrile seizures plus | GABRD | 1 | p36.33 | Ataxia spectrum | |
| Genetic epilepsy with febrile seizures plus | GABRG2 | 5 | q34 | Ataxia spectrum | |
| Genetic epilepsy with febrile seizures plus | GABRG2 | 5 | q34 | Epilepsy and seizures | |
| Genetic epilepsy with febrile seizures plus | SCN1A | 2 | q24.3 | Epilepsy and seizures | |
| Genetic epilepsy with febrile seizures plus | SCN1B | 19 | q13.11 | Ataxia spectrum | |
| Genetic epilepsy with febrile seizures plus | SCN1B | 19 | q13.11 | Epilepsy and seizures | |
| Genetic epilepsy with febrile seizures plus | SCN2A | 2 | q24.3 | Epilepsy and seizures | |
| Genetic epilepsy with febrile seizures plus | SCN9A | 2 | q24.3 | Epilepsy and seizures | |
| Genetic epilepsy with febrile seizures plus | STX1B | 16 | p11.2 | Epilepsy and seizures | |
| Genetic epilepsy with febrile seizures plus | STX1B | 16 | p11.2 | Ataxia spectrum | |
| Gestational diabetes | CDKAL1 | 6 | p22.3 | Diabetes | |
| Gestational diabetes | GCK | 7 | p13 | Diabetes | |
| Gestational diabetes | IGF2BP2 | 3 | q27.2 | Diabetes | |
| Gestational diabetes | IRS1 | 2 | q36.3 | Diabetes | |
| Gestational diabetes | KCNJ11 | 11 | p15.1 | Diabetes | |
| Gestational diabetes | KCNQ1 | 11 | p15.5 | Diabetes | |
| Gestational diabetes | MTNR1B | 11 | q14.3 | Diabetes | |
| Gestational diabetes | TCF7L2 | 10 | q25.2 | Diabetes | |
| Giant axonal neuropathy | GAN | 16 | q23.2 | Ataxia spectrum | |
| GILLES DE LA TOURETTE SYNDROME | GDNF | 5 | p13.2 | Autism spectrum | |
| Gillespie syndrome | ITPR1 | 3 | p26.1 | Ataxia spectrum | |
| Gillespie syndrome | PAX6 | 11 | p13 | Ataxia spectrum | |
| Global cerebral hypomyelination | SLC25A12 | 2 | q24 | Autism spectrum | |
| GLOBAL DEVELOPMENTAL DELAY LUNG CYSTS OVERGROWTH WILMS TUMOR | GLOW | 14 | q32.13 | Autism spectrum | |
| Glucose phosphate isomerase deficiency | GPI | 19 | q13.1 | Tachycardia (>100 beats/minute) | |
| Glucose-6-phosphate dehydrogenase deficiency | G6PD | 23 | q28 | Tachycardia (>100 beats/minute) | |
| GLUT1 deficiency syndrome | SLC2A1 | 1 | p34.2 | Ataxia spectrum | |
| GLUTAMATE RECEPTOR IONOTROPIC N-METHYL-D-ASPARTATE SUBUNIT 1 | GRIN1 | 9 | q34.3 | Autism spectrum | |
| GLUTAMATE RECEPTOR METABOTROPIC 5 | GRM5 | 11 | q14.2-q14. | Autism spectrum | |
| Glutathione peroxidase deficiency | GPX1 | 3 | p21.31 | Pervasive Developmental Delay | |
| Gluten allergy | HLA-DQA1 | 6 | p21.3 | Gluten intolerance | |
| Gluten allergy | HLA-DQB1 | 6 | p21.3 | Gluten intolerance | |
| Gluten allergy | RMRP | 9 | p13.3 | Gluten intolerance | |
| GLYCINE ENCEPHALOPATHY | AMT | 3 | p21.31 | Autism spectrum | |
| GLYCINE ENCEPHALOPATHY | GCSH | 16 | q23.2 | Autism spectrum | |
| GLYCINE ENCEPHALOPATHY | GLDC | 9 | p24.1 | Autism spectrum | |
| GLYCINE ENCEPHALOPATHY | SLC6A9 | 1 | p34.1 | Autism spectrum | |
| Glycogen storage disease type I | G6PC | 17 | q21.31 | Hyperlipidemia | |
| Glycogen storage disease type I | SLC37A4 | 11 | q23.3 | Hyperlipidemia | |
| Glycogen storage disease type III | AGL | 1 | p21.2 | Hyperlipidemia | |
| Glycogen storage disease type IV (GSD IV) | GBE1 | 3 | p12.3 | Arthrogryposis spectrum | |
| GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 | GPIBD11 | 17 | q12 | Autism spectrum | |
| GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | GPIBD17 | 14 | q24.1 | Autism spectrum | |
| GLYOXALASE I | GLO1 | 6 | p21.2 | Autism spectrum | |
| GM3 synthase deficiency | ST3GAL5 | 2 | p11.2 | Epilepsy and seizures | |
| Gordon Holmes syndrome | PNPLA6 | 19 | p13.2 | Ataxia spectrum | |
| Gordon Holmes syndrome | RNF216 | 7 | p22.1 | Ataxia spectrum | |
| Graves Disease | CTLA4 | 2 | q33 | Bradycardia (<60 beats/minute) | |
| Graves Disease | HLA-DRB1 | 6 | p21.3 | Bradycardia (<60 beats/minute) | |
| Graves Disease | TG | 8 | q24 | Bradycardia (<60 beats/minute) | |
| Graves Disease | TSHR | 14 | q31 | Bradycardia (<60 beats/minute) | |
| Graves disease - overactive thyroid | CD40 | 20 | q13.12 | Hyperthyroidism | |
| Graves disease - overactive thyroid | CTLA4 | 2 | q33.2 | Hyperthyroidism | |
| Graves disease - overactive thyroid | HLA-DRB1 | 6 | p21.32 | Hyperthyroidism | |
| Graves disease - overactive thyroid | IL2RA | 10 | p15.1 | Hyperthyroidism | |
| Graves disease - overactive thyroid | PTPN22 | 1 | p13.2 | Hyperthyroidism | |
| Graves disease - overactive thyroid | SCGB3A2 | 5 | q32 | Hyperthyroidism | |
| Graves disease - overactive thyroid | TG | 8 | q24.22 | Hyperthyroidism | |
| Graves disease - overactive thyroid | TSHR | 14 | q31.1 | Hyperthyroidism | |
| Griscelli syndrome | MYO5A | 15 | q21.2 | Autism spectrum | |
| Guanidinoacetate methyltransferase deficiency | GAMT | 19 | p13.3 | Autism spectrum | |
| Guillain-Barré syndrome | TNF | 6 | p21.33 | Guillain-Barre spectrum | |
| Gyrate atrophy | OAT | 10 | q26.13 | Cataracts | |