Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001283009.2:c.1993G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608833.1.1 | Lebanon | Dyspnea; Hypoxemia; Thrombocytopenia; Premature graying of hair; Hypopigmentation of the skin; Pulmonary fibrosis; Portal hypertension; Bone marrow hypercellularity; Abnormality of the liver; Death in early adulthood | Male | Yes | Yes | Proband, individual 'IV-3' in the publication |
| 608833.1.2 | Lebanon | Short telomere length | Female | Yes | Mother of 608833.1.1 | |
| 608833.1.3 | Lebanon | Acute myeloid leukemia; Short telomere length; Hypopigmentation of the skin; Death in early adulthood | Female | Yes | Yes | Sibling of 608833.1.1 |
| 608833.1.5 | Lebanon | Avascular necrosis; Short telomere length | Female | Yes | Yes | Sibling of 608833.1.1 |
| 608833.1.6 | Lebanon | Thrombocytopenia; Short telomere length | Male | Yes | Yes | Sibling of 608833.1.1 |
| 608833.1.7 | Lebanon | Avascular necrosis; Short telomere length | Female | Yes | Yes | Sibling of 608833.1.1 |
| 608833.1.8 | Lebanon | Thrombocytopenia; Short telomere length | Female | Yes | Yes | Sibling of 608833.1.1 |
| 608833.1.9 | Lebanon | Short telomere length | Female | Yes | Yes | Asymptomatic sibling of 608833.1.1 |
| 608833.1.10 | Lebanon | Short telomere length | Male | Yes | Asymptomatic cousin of 608833.1.1 |