Practice for Gait Abnormalities, David Pomarino (Competency Network Toe Walking c/o Practice Pomarino), Praxis Pomarino
General information
Practice for Gait Abnormalities, David Pomarino, Praxis Pomarino
Competency Network Toe Walking c/o Practice Pomarino
Rahlstedter Bahnhofstrasse 9
Hamburg
Hamburg
Germany - 22143
http://www.ptz-pomarino.de
Organization ID: 507943
Competency Network Toe Walking c/o Practice Pomarino
Rahlstedter Bahnhofstrasse 9
Hamburg
Hamburg
Germany - 22143
http://www.ptz-pomarino.de
Organization ID: 507943
Personnel
- David Pomarino, CEO
Phone: 00494051320880
Email: info@ptz-pomarino.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 264
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AIFM1 | 3 | Jun 5, 2024 |
| ALS2 | 3 | Jun 5, 2024 |
| ATM | 13 | Sep 23, 2024 |
| ATXN1 | 2 | Jun 3, 2024 |
| ATXN2 | 1 | Jun 5, 2024 |
| ATXN3 | 1 | Jun 2, 2024 |
| ATXN7 | 1 | Jun 2, 2024 |
| C11orf65 | 8 | Sep 23, 2024 |
| C17orf107 | 4 | Jun 20, 2024 |
| CACNA1A | 6 | Jun 5, 2024 |
| CAV3 | 1 | Jun 3, 2024 |
| CHRNE | 4 | Jun 20, 2024 |
| CLCN1 | 12 | Jun 5, 2024 |
| COL6A2 | 6 | Sep 23, 2024 |
| COL6A3 | 12 | Jun 5, 2024 |
| CREBBP | 6 | Jun 5, 2024 |
| DHTKD1 | 4 | Jun 5, 2024 |
| EGR2 | 1 | Jun 3, 2024 |
| EPHB4 | 1 | Apr 19, 2021 |
| FBLN5 | 1 | Jun 2, 2024 |
| GARS1 | 1 | Jun 5, 2024 |
| GDAP1 | 2 | Jun 5, 2024 |
| IQSEC2 | 2 | Jun 5, 2024 |
| KCNC3 | 3 | Jun 5, 2024 |
| KMT2C | 7 | Jun 5, 2024 |
| LITAF | 1 | Jun 2, 2024 |
| LOC101928008 | 4 | Jun 2, 2024 |
| LOC105369149 | 1 | Jun 5, 2024 |
| LOC126806425 | 1 | Jun 2, 2024 |
| LOC126806426 | 1 | Jun 2, 2024 |
| LOC126806428 | 1 | Jun 2, 2024 |
| LOC126806431 | 1 | Jun 3, 2024 |
| LOC126806432 | 1 | Jun 2, 2024 |
| LOC126862866 | 1 | Jun 2, 2024 |
| LOC129935184 | 1 | Jun 3, 2024 |
| LOC130058357 | 1 | Jun 2, 2024 |
| MED25 | 5 | Jul 31, 2024 |
| MFN2 | 3 | Jun 5, 2024 |
| MORC2 | 2 | Sep 23, 2024 |
| MPZ | 2 | Jun 5, 2024 |
| NAGLU | 5 | Jun 5, 2024 |
| NCAPH2 | 1 | Sep 7, 2021 |
| NEFL | 1 | Jun 5, 2024 |
| OPA1 | 3 | Jun 5, 2024 |
| PMP22 | 2 | Jun 2, 2024 |
| POLG | 11 | Jun 5, 2024 |
| POLGARF | 11 | Jun 5, 2024 |
| PRX | 7 | Jun 5, 2024 |
| PYGM | 19 | Jun 20, 2024 |
| RAB33A | 3 | Jun 5, 2024 |
| SBF1 | 5 | Jun 5, 2024 |
| SBF2 | 7 | Jun 5, 2024 |
| SBF2-AS1 | 2 | Jun 5, 2024 |
| SCO2 | 1 | Sep 7, 2021 |
| SH3TC2 | 12 | Jun 5, 2024 |
| SPAST | 1 | Jun 2, 2024 |
| SSUH2 | 1 | Jun 3, 2024 |
| TRIO | 3 | Jun 3, 2024 |
| TRPV4 | 4 | Jun 5, 2024 |
| TTN | 70 | Jun 5, 2024 |
| TTN-AS1 | 40 | Jun 5, 2024 |
| TTR | 3 | Jun 20, 2024 |
| TYMP | 1 | Sep 7, 2021 |
| ZFYVE26 | 4 | Jun 5, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Delayed speech and language development | 1 | Feb 8, 2021 |
| Pes cavus | 1 | Feb 8, 2021 |
| Tip-toe gait | 263 | Sep 23, 2024 |
| Venous malformation | 1 | Apr 19, 2021 |
| limited range of motion of the upper ankle | 1 | Feb 8, 2021 |