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: 260
Gene
Gene | Submissions | Last Updated |
---|---|---|
AIFM1 | 3 | Aug 8, 2023 |
ALS2 | 3 | Aug 3, 2023 |
ATM | 12 | Aug 7, 2023 |
ATXN1 | 2 | Apr 26, 2022 |
ATXN2 | 1 | May 9, 2022 |
ATXN3 | 1 | Mar 31, 2021 |
ATXN7 | 1 | Apr 8, 2022 |
C11orf65 | 7 | Aug 7, 2023 |
C17orf107 | 4 | Aug 9, 2023 |
CACNA1A | 6 | Aug 14, 2023 |
CAV3 | 1 | Apr 29, 2022 |
CHRNE | 4 | Aug 9, 2023 |
CLCN1 | 12 | Aug 14, 2023 |
COL6A2 | 5 | Aug 7, 2023 |
COL6A3 | 12 | Aug 7, 2023 |
CREBBP | 6 | Aug 8, 2023 |
DHTKD1 | 4 | Aug 14, 2023 |
EGR2 | 1 | Apr 27, 2022 |
EPHB4 | 1 | Apr 19, 2021 |
FBLN5 | 1 | Feb 22, 2022 |
GARS1 | 1 | May 10, 2022 |
GDAP1 | 2 | Aug 14, 2023 |
IQSEC2 | 2 | May 11, 2022 |
KCNC3 | 3 | Aug 3, 2023 |
KMT2C | 7 | Aug 8, 2023 |
LITAF | 1 | Apr 1, 2022 |
LOC101928008 | 4 | Aug 16, 2021 |
LOC105369149 | 1 | May 10, 2022 |
LOC126806425 | 1 | Apr 8, 2022 |
LOC126806426 | 1 | Apr 8, 2021 |
LOC126806428 | 1 | Apr 20, 2022 |
LOC126806431 | 1 | Apr 26, 2022 |
LOC126806432 | 1 | Apr 8, 2022 |
LOC126862866 | 1 | Mar 31, 2022 |
LOC129935184 | 1 | Apr 26, 2022 |
LOC130058357 | 1 | Mar 25, 2021 |
MED25 | 4 | Aug 8, 2023 |
MFN2 | 3 | Aug 4, 2023 |
MORC2 | 1 | Nov 24, 2021 |
MPZ | 2 | Aug 7, 2023 |
NAGLU | 5 | Aug 3, 2023 |
NCAPH2 | 1 | Sep 7, 2021 |
NEFL | 1 | Aug 8, 2023 |
OPA1 | 3 | Aug 9, 2023 |
PMP22 | 2 | Jul 27, 2021 |
POLG | 11 | Aug 9, 2023 |
POLGARF | 11 | Aug 9, 2023 |
PRX | 7 | Aug 2, 2023 |
PYGM | 19 | Aug 8, 2023 |
RAB33A | 3 | Aug 8, 2023 |
SBF1 | 5 | Aug 3, 2023 |
SBF2 | 7 | May 11, 2022 |
SBF2-AS1 | 2 | May 10, 2022 |
SCO2 | 1 | Sep 7, 2021 |
SH3TC2 | 12 | Aug 14, 2023 |
SPAST | 1 | Feb 1, 2022 |
SSUH2 | 1 | Apr 29, 2022 |
TRIO | 3 | Apr 26, 2022 |
TRPV4 | 4 | Aug 14, 2023 |
TTN | 70 | Aug 8, 2023 |
TTN-AS1 | 40 | Aug 8, 2023 |
TTR | 3 | Aug 2, 2023 |
TYMP | 1 | Sep 7, 2021 |
ZFYVE26 | 4 | May 10, 2022 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Delayed speech and language development | 1 | Feb 8, 2021 |
Pes cavus | 1 | Feb 8, 2021 |
Tip-toe gait | 259 | Aug 14, 2023 |
Venous malformation | 1 | Apr 19, 2021 |
limited range of motion of the upper ankle | 1 | Feb 8, 2021 |