Cirak Lab (University Hospital Cologne)
General information
Personnel
- Sebahattin Cirak, Principal Investigator
Phone: 004922147889680
Email: Sebahattin.Cirak@uk-koeln.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 84
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTA1 | 1 | Aug 20, 2019 |
| ADSS1 | 1 | Aug 20, 2019 |
| ALDH5A1 | 1 | Aug 20, 2019 |
| ALS2 | 7 | Oct 30, 2019 |
| ASAH1 | 2 | Aug 20, 2019 |
| ASCC1 | 2 | Feb 25, 2020 |
| ASPM | 2 | Aug 20, 2019 |
| ATP2B3 | 1 | Aug 20, 2019 |
| AVEN | 1 | Aug 20, 2019 |
| BLTP1 | 2 | Aug 20, 2019 |
| CCN6 | 1 | Dec 18, 2017 |
| CHRND | 1 | Aug 20, 2019 |
| CHRNG | 1 | Aug 20, 2019 |
| CNTNAP1 | 2 | Aug 20, 2019 |
| DQX1 | 1 | Aug 20, 2019 |
| DYNC1H1 | 2 | Aug 20, 2019 |
| EARS2 | 2 | Aug 20, 2019 |
| FBLN1 | 1 | Aug 20, 2019 |
| GBE1 | 1 | Aug 20, 2019 |
| GCN1 | 1 | Aug 20, 2019 |
| GFRA4 | 1 | Aug 20, 2019 |
| GLDN | 2 | Aug 20, 2019 |
| IQSEC3 | 2 | Aug 20, 2019 |
| IQSEC3-AS1 | 1 | Aug 20, 2019 |
| IQSEC3-AS3 | 1 | Aug 20, 2019 |
| LGI4 | 2 | Aug 20, 2019 |
| LOC125177481 | 1 | Aug 20, 2019 |
| MAGI3 | 1 | Aug 20, 2019 |
| MTMR2 | 4 | May 30, 2019 |
| NAGA | 1 | Aug 20, 2019 |
| NALCN | 3 | Aug 20, 2019 |
| PIEZO2 | 3 | Aug 20, 2019 |
| PRG4 | 1 | Aug 20, 2019 |
| PRICKLE1 | 1 | Aug 20, 2019 |
| RAPSN | 2 | Aug 20, 2019 |
| ROR2 | 2 | Aug 20, 2019 |
| RYR1 | 11 | Aug 20, 2019 |
| RYR3 | 1 | Aug 20, 2019 |
| SCN4A | 1 | Aug 20, 2019 |
| SCN5A | 1 | Aug 20, 2019 |
| SCN8A | 1 | Aug 20, 2019 |
| SETBP1 | 1 | Aug 20, 2019 |
| SLC6A5 | 2 | Apr 2, 2019 |
| SPAG16 | 2 | Aug 20, 2019 |
| TMPO | 1 | Aug 20, 2019 |
| UNC45B | 1 | Apr 9, 2020 |
| UNC50 | 1 | Aug 20, 2019 |
| VPS13D | 2 | Aug 20, 2019 |
| ZEB2 | 1 | Aug 20, 2019 |
| ZNF875 | 1 | Aug 20, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Arthrogryposis multiplex congenita | 68 | Aug 20, 2019 |
| Charcot-Marie-Tooth disease type 4B1 | 4 | May 30, 2019 |
| Exaggerated startle response | 2 | Apr 2, 2019 |
| Fetal akinesia deformation sequence 1 | 69 | Feb 25, 2020 |
| Infantile-onset ascending hereditary spastic paralysis | 6 | Oct 30, 2019 |
| Juvenile primary lateral sclerosis | 1 | Oct 30, 2019 |
| Myopathy | 1 | Apr 9, 2020 |
| Progressive pseudorheumatoid dysplasia | 1 | Dec 18, 2017 |
