Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.2:c.817C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220400.2.1 | Saudi Arabia | Sensorineural hearing impairment; Syncope; Seizure; Prolonged QTc interval | Female | Yes | Yes | Proband from 'Family A' in the publication |
| 220400.2.3 | Saudi Arabia | Sensorineural hearing impairment; Prolonged QTc interval; | Female | Yes | Yes | Sister of 220400.2.1 |
| 220400.2.4 | Saudi Arabia | Male | No | Father of 220400.2.1, minor QTc prolongation after exercise noted | ||
| 220400.2.5 | Saudi Arabia | Female | No | Mother of 220400.2.1, minor QTc prolongation after exercise noted | ||
| 220400.2.6 | Saudi Arabia | Prolonged QTc interval | Male | No | Paternal grandfather of 220400.2.1 | |
| 220400.2.7 | Saudi Arabia | Palpitations ; Prolonged QTc interval | Female | No | II:2, paternal aunt of 220400.2.1 | |
| 220400.2.8 | Saudi Arabia | Male | No | Paternal uncle of 220400.2.1 | ||
| 220400.2.9 | Saudi Arabia | Palpitations | Female | No | Paternal aunt of 220400.2.1 | |
| 220400.2.10 | Saudi Arabia | Male | No | Maternal uncle of 220400.2.1 | ||
| 220400.2.11 | Saudi Arabia | Prolonged QTc interval | Female | No | Maternal aunt of 220400.2.1 | |
| 220400.2.12 | Saudi Arabia | Prolonged QTc interval | Male | No | Paternal cousin of 220400.2.1, has Stickler syndrome |