Gene Mapping Laboratory (Hacettepe University)
General information
Personnel
- Arda Cetinkaya, Principal Investigator
Phone: +905326529663
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ARSA | 1 | Jan 18, 2021 |
| HEATR3 | 1 | Nov 16, 2021 |
| LOC130065793 | 1 | Jan 17, 2022 |
| RAB5IF | 1 | Jan 17, 2022 |
| TGIF2-RAB5IF | 1 | Jan 17, 2022 |
| TRPV5 | 1 | Apr 27, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormality of the vertebral column | 1 | Jan 17, 2022 |
| Bifid ribs | 1 | Jan 17, 2022 |
| Bilateral cleft lip and palate | 1 | Jan 17, 2022 |
| Diamond-Blackfan anemia | 1 | Nov 16, 2021 |
| Flat face | 1 | Jan 17, 2022 |
| Hypertelorism | 1 | Jan 17, 2022 |
| Intellectual disability | 1 | Jan 17, 2022 |
| Macrocephaly | 1 | Jan 17, 2022 |
| Metachromatic leukodystrophy | 1 | Jan 18, 2021 |
| Micrognathia | 1 | Jan 17, 2022 |
| Renal Calcium Wasting Hypercalciuria | 1 | Apr 27, 2023 |
| Rib fusion | 1 | Jan 17, 2022 |
| Scoliosis | 1 | Jan 17, 2022 |