Christopher A. Walsh Laboratory (Boston Children's Hospital)
General information
Christopher A. Walsh Laboratory
Boston Children's Hospital
300 Longwood Avenue, BCH3150
Boston
Massachusetts
United States - 02115
http://www.walshlab.org/
Organization ID: 505902
Boston Children's Hospital
300 Longwood Avenue, BCH3150
Boston
Massachusetts
United States - 02115
http://www.walshlab.org/
Organization ID: 505902
Personnel
- Robert Sean Hill, Informatics staff
Phone: 617-919-4793
Email: robert.hill@childrens.harvard.edu - Jennifer Partlow, Contact
Phone: 617-919-2865
Email: jennifer.partlow@childrens.harvard.edu - Christopher Walsh, Principal Investigator
Phone: 617-919-2923
Email: christopher.walsh@childrens.harvard.edu
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CNTNAP1 | 1 | Aug 24, 2016 |
| EMC10 | 1 | Dec 9, 2020 |
| LOC129999422 | 1 | Aug 20, 2019 |
| WDR91 | 2 | Apr 17, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Intellectual disability | 1 | Dec 9, 2020 |
| Lethal congenital contracture syndrome 7 | 1 | Aug 24, 2016 |
| Neurodevelopmental disorder with brain malformations and multiple congenital anomalies | 2 | Apr 17, 2020 |