Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001199282.2:c.865_866delGT | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614700.3.1 | Lebanon | Recurrent infections ; Immune dysregulation | Male | Yes | Yes | Proband |
| 614700.3.2 | Lebanon | Recurrent infections ; Immune dysregulation | Female | Yes | Yes | Sister of 614700.3.1 |
| 614700.3.3 | Lebanon | Male | Yes | Yes | Unaffected father of 614700.3.1 | |
| 614700.3.4 | Lebanon | Female | Yes | Yes | Unaffected mother of 614700.3.1 | |
| 614700.3.5 | Lebanon | Female | Yes | Yes | Unaffected sister of 614700.3.1 |