TGen's Center For Rare Childhood Disorders (Translational Genomics Research Institute (TGEN)), TGEN-C4RCD
General information
Personnel
- Isabelle Schrauwen, Principal Investigator
Phone: 6023438644
Email: ischrauwen@tgen.org - Keri Ramsey, Principal Investigator
Phone: 602-343-8620
Email: kramsey@tgen.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 18
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant epilepsy | 1 | Jan 12, 2017 |
| Cerebellar-facial-dental syndrome | 2 | May 10, 2021 |
| Developmental and epileptic encephalopathy, 17 | 1 | Sep 11, 2017 |
| Epilepsy, progressive myoclonic, 11 | 1 | Jan 20, 2022 |
| Global developmental delay | 2 | Mar 17, 2023 |
| Hereditary spastic paraplegia 49 | 2 | Apr 29, 2021 |
| Hypomyelinating leukodystrophy 2 | 2 | Feb 7, 2017 |
| Intellectual disability, autosomal dominant 30 | 1 | Apr 14, 2016 |
| Leigh syndrome | 1 | Aug 4, 2015 |
| Parkinsonian disorder | 2 | Jan 12, 2017 |
| Rett syndrome | 2 | Sep 11, 2017 |
| Spastic paraplegia 52, autosomal recessive | 1 | Nov 7, 2019 |