Numbers of patients with confirmed pathogenic, LP, or VUS from the high throughput sequencing
| BPDG, n = 72 . | |||||
|---|---|---|---|---|---|
| . | Pathogenic . | LP . | VUSs . | ||
| Patients (%) | 4 (6) | 3 (4) | 11 (15) | ||
| Monoallelic variant genes | ANKRD26 GP1BB TUBB1 ETV6 | VWF ETV6 ANKRD26 | ITGA2B ANKRD26 TUBB1 | RUNX1 MECOM TBXA2R | GP1BA SLFN14 ITGB2 |
| PIDG, n = 50 | |||||
| Pathogenic | LP | VUSs | |||
| Patients (%) | 1 (2) | 1 (2) | 15 (30) | ||
| Monoallelic variant genes | NOD2 | TLR3 CASP10 PLCG2 TINF2 | NLRP12 NOD2 NFKB2 STAT3 | PARN CTLA4 PIK3CD | |
| Biallelic variant genes | UNC13D | DOCK8 STXBP2 | LRBA | ||
| BPDG, n = 72 . | |||||
|---|---|---|---|---|---|
| . | Pathogenic . | LP . | VUSs . | ||
| Patients (%) | 4 (6) | 3 (4) | 11 (15) | ||
| Monoallelic variant genes | ANKRD26 GP1BB TUBB1 ETV6 | VWF ETV6 ANKRD26 | ITGA2B ANKRD26 TUBB1 | RUNX1 MECOM TBXA2R | GP1BA SLFN14 ITGB2 |
| PIDG, n = 50 | |||||
| Pathogenic | LP | VUSs | |||
| Patients (%) | 1 (2) | 1 (2) | 15 (30) | ||
| Monoallelic variant genes | NOD2 | TLR3 CASP10 PLCG2 TINF2 | NLRP12 NOD2 NFKB2 STAT3 | PARN CTLA4 PIK3CD | |
| Biallelic variant genes | UNC13D | DOCK8 STXBP2 | LRBA | ||
All pathogenic results were confirmed by Sanger sequencing and discussed in MDTs with appropriate clinicians before feeding the results back to the patients. LP findings fulfill the American College of Medical Genetics (ACMG) criteria for this category, but not all have been confirmed by Sanger sequencing and therefore, have not been reported clinically. All VUS categorizations fulfill ACMG criteria but the sequencing is not of clinical standard (except for patients sequenced by 100,000 Genomes in which VUS were reported back to clinicians and patients).