Care4Rare-SOLVE (CHEO), C4R
Personnel
- Meredith Gillespie, Contact
Phone: 613-737-7600 ext. 4421
Email: mgillespie@cheo.on.ca - Taila Hartley, Contact
Phone: 613-737-7600 ext. 4180
Email: thartley@cheo.on.ca
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 35
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Asphyxiating thoracic dystrophy 3 | 2 | Dec 1, 2022 |
| Charcot-Marie-Tooth disease axonal type 2U | 1 | Oct 31, 2019 |
| Early infantile epileptic encephalopathy with suppression bursts | 2 | Feb 23, 2017 |
| Ectrodactyly | 1 | Sep 29, 2020 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Aug 10, 2017 |
| Lactic acidosis | 1 | Feb 22, 2021 |
| PIK3CA related overgrowth syndrome | 10 | May 30, 2023 |
| Platyspondyly | 1 | Aug 9, 2023 |
| Short distal phalanx of finger | 1 | Aug 9, 2023 |
| Short palm | 1 | Aug 9, 2023 |
| Short stature | 1 | Aug 9, 2023 |
| Spastic ataxia | 1 | Nov 1, 2019 |
| Spastic paraplegia | 6 | Jul 20, 2021 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 | Jan 19, 2017 |
| Spondyloepiphyseal dysplasia | 1 | Aug 9, 2023 |
| TRIT1 Deficiency | 5 | Jan 26, 2017 |
| Yunis-Varon syndrome | 2 | Feb 22, 2017 |