Shaikh laboratory (University of Colorado)
Personnel
- Director: Tamim Shaikh
Phone: 303-724-5399
Email: tamim.shaikh@ucdenver.edu - Curtis Coughlin
- Hung-Chun Yu, Informatics staff
Phone: 4058083319
Email: hcyu007@hotmail.com - Hung-Chun Yu, Informatics staff
Phone: 4058083319
Email: hcyu007@hotmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 22
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alpers encephalopathy | 1 | Oct 23, 2014 |
| Kabuki syndrome 1 | 12 | Feb 5, 2015 |
| Kabuki syndrome 2 | 4 | Feb 5, 2015 |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 | Mar 8, 2017 |
| Septo-optic dysplasia sequence | 2 | Mar 9, 2017 |
| Tubulinopathy | 1 | Oct 6, 2016 |
| not provided | 2 | Oct 22, 2015 |