UW Hindbrain Malformation Research Program (University Of Washington)
General information
UW Hindbrain Malformation Research Program
University Of Washington
1959 NE Pacific Street Box 356320
Seattle
Washington
United States - 98195
http://depts.washington.edu/joubert/
Organization ID: 505588
University Of Washington
1959 NE Pacific Street Box 356320
Seattle
Washington
United States - 98195
http://depts.washington.edu/joubert/
Organization ID: 505588
Personnel
- Dan Doherty, Principal Investigator
Phone: 206-616-3788
Email: ddoher@uw.edu - Julie Van De Weghe, Lab Associate Director
Phone: 206-616-3788
Email: julievdw@uw.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 307
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AHI1 | 32 | Sep 16, 2015 |
| ARFGEF1 | 2 | Sep 16, 2015 |
| ARL13B | 4 | Sep 16, 2015 |
| ARMC9 | 10 | Jun 9, 2017 |
| B9D1 | 3 | Sep 16, 2015 |
| B9D2 | 3 | Sep 16, 2015 |
| C2CD3 | 3 | Sep 16, 2015 |
| CC2D2A | 36 | Sep 16, 2015 |
| CEP290 | 30 | Sep 16, 2015 |
| CPLANE1 | 39 | Sep 16, 2015 |
| CSPP1 | 17 | Sep 16, 2015 |
| IFT172 | 1 | Sep 16, 2015 |
| INPP5E | 14 | Sep 16, 2015 |
| KIAA0586 | 9 | Sep 16, 2015 |
| KIF7 | 4 | Sep 16, 2015 |
| LOC126862216 | 1 | Sep 16, 2015 |
| LOC129390514 | 1 | Sep 16, 2015 |
| LOC130004408 | 1 | Sep 16, 2015 |
| LOC130061271 | 1 | Sep 16, 2015 |
| MKS1 | 13 | Sep 16, 2015 |
| OFD1 | 4 | Sep 16, 2015 |
| PIBF1 | 2 | Sep 16, 2015 |
| RPGRIP1L | 11 | Sep 16, 2015 |
| TCTN1 | 1 | Sep 16, 2015 |
| TCTN2 | 7 | Sep 16, 2015 |
| TCTN3 | 1 | Sep 16, 2015 |
| TMEM138 | 1 | Sep 16, 2015 |
| TMEM216 | 5 | Sep 16, 2015 |
| TMEM218 | 5 | Nov 5, 2020 |
| TMEM237 | 2 | Sep 16, 2015 |
| TMEM67 | 39 | Sep 16, 2015 |
| TOGARAM1 | 8 | Nov 5, 2020 |
| TRAPPC12 | 2 | Jul 6, 2017 |
| TRAPPC12-AS1 | 1 | Jul 6, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| ARMC9-related Joubert syndrome | 10 | Jun 9, 2017 |
| Acrocallosal syndrome | 4 | Sep 16, 2015 |
| Familial aplasia of the vermis | 57 | Nov 5, 2020 |
| Joubert syndrome 10 | 4 | Sep 16, 2015 |
| Joubert syndrome 13 | 1 | Sep 16, 2015 |
| Joubert syndrome 14 | 2 | Sep 16, 2015 |
| Joubert syndrome 16 | 1 | Sep 16, 2015 |
| Joubert syndrome 17 | 39 | Sep 16, 2015 |
| Joubert syndrome 18 | 1 | Sep 16, 2015 |
| Joubert syndrome 2 | 5 | Sep 16, 2015 |
| Joubert syndrome 21 | 17 | Sep 16, 2015 |
| Joubert syndrome 23 | 9 | Sep 16, 2015 |
| Joubert syndrome 3 | 32 | Sep 16, 2015 |
| Joubert syndrome 5 | 30 | Sep 16, 2015 |
| Joubert syndrome 6 | 39 | Sep 16, 2015 |
| Joubert syndrome 7 | 11 | Sep 16, 2015 |
| Joubert syndrome 8 | 4 | Sep 16, 2015 |
| Joubert syndrome 9 | 36 | Sep 16, 2015 |
| Joubert syndrome with renal defect | 1 | Sep 16, 2015 |
| Meckel syndrome, type 4 | 2 | Nov 5, 2020 |
| Progressive childhood encephalopathy | 2 | Jul 6, 2017 |