Table 1. Geographic origin of the 1000 families and the 307 patients with pathogenic/likely pathogenic variants tested by clinical WES.
| Geographic region | No. of patients in total (%a) | No. of patients with P/LP variants (%b) |
|---|---|---|
| Middle East | 785 (78.5) | 244 (79.5) |
| South / North America | 42 (4.2) | 8 (2.6) |
| Europe | 106 (10.6) | 33 (10.8) |
| South Asia | 58 (5.8) | 21 (6.9) |
| Oceania | 8 (0.8) | 1 (0.3) |
| South Africa | 1 (0.1) | 0 (0) |
| Age of Patients | ||
| Prenatal | 23 (2.3) | 4 (1.3) |
| <1 year | 141 (14.1) | 42 (13.7) |
| 1–5 years | 394 (39.4) | 128 (41.7) |
| 5–15 years | 285 (28.5) | 73 (23.8) |
| 15–30 years | 81 (8.1) | 23 (7.5) |
| >30 years | 38 (3.8) | 10 (3.3) |
| Unknown | 38 (3.8) | 27 (8.8) |
| Total | 1000 | 307 |
| Consanguineous | 453/1000 (45.3) | 158/307 (51.5) |
Abbreviations: LP, likely pathogenic; P, pathogenic. Age distribution and consanguinity are shown as well.
a
% among the 1000 cases.
b
% among the 307 positive/likely positive WES cases.