Table 2.
Personal disease risk (PDR) identified in the 40 participants.
| Gene | Condition | N* |
|---|---|---|
| ABCA4 | Age Related Macular Degeneration | 4 |
| APO E4/E3* | Alzheimer's Disease | 19 |
| APO E4/E4 | Alzheimer's Disease | 1 |
| DSP | Arrythmogenic Right Ventricular Cardiomyopathy | 1 |
| G6PD** | Glucose 6 Phosphate Dehydrogenase | 1 |
| GCKR | Hypertriglyceridemia | 1 |
| GJB1** | Charcot-Marie-Tooth Neuropathy X type 1 | 1 |
| HFE*** | Hereditary Hemochromatosis | 1 |
| KCNE2 | Arrhythmia | 1 |
| LHX4 | Pituitary hormone deficiency | 1 |
| MC4R | Obesity | 1 |
| MEFV*** | Familial Mediterranean Fever | 1 |
| MYBPC3 | Cardiomyopathy | 1 |
| MSH6 | Hereditary Nonpolyposis Colorectal Cancer | 1 |
| MYH7 | Cardiomyopathy | 1 |
| SCN5A | Arrhythmia | 3 |
| SERPINA1 S/Z | Alpha-1-antitrypsin deficiency | 1 |
| SERPINA10 | Venous thromboembolic disease | 1 |
| VWD | Von Willebrand Disease | 1 |
| ZEB1 | Fuchs' corneal dystrophy | 2 |
| Total * | 44 |
*
4 people had APO E4/E3 and an additional pathogenic variant
**
X-linked condition, participant was male or a phenotype was also reported in females
***
Participant has compound heterozygous pathogenic variants