Clinical Biomedical Laboratory (Shriners Hospital For Children - Canada), SHC_MD
General information
Personnel
- Ghalib Bardai, Variant scientist/curator
Phone: 1-514-282-8251
Email: gbardai@shrinenet.org - Frank Rauch, Lab Director
Phone: 1-514-282-7193
Email: frauch@shriners.mcgill.ca
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 54
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| COL1A1 | 24 | Jun 11, 2025 |
| COL1A2 | 2 | May 13, 2025 |
| COL2A1 | 1 | Aug 9, 2024 |
| COL6A2 | 1 | May 13, 2025 |
| COL9A2 | 1 | May 9, 2025 |
| EXT1 | 3 | Mar 5, 2025 |
| FBN1 | 3 | May 9, 2025 |
| FGFR3 | 1 | May 9, 2025 |
| FKBP10 | 2 | May 13, 2025 |
| GORAB | 1 | May 13, 2025 |
| IFITM5 | 1 | May 13, 2025 |
| KIF22 | 1 | May 13, 2025 |
| LEMD3 | 1 | May 13, 2025 |
| LMX1B | 1 | May 13, 2025 |
| LOC123493284 | 1 | May 9, 2025 |
| LOC130057352 | 1 | May 13, 2025 |
| NPR3 | 1 | May 9, 2025 |
| PGGHG | 1 | May 13, 2025 |
| PHEX | 6 | May 9, 2025 |
| PMP22 | 1 | May 9, 2025 |
| PTCHD1-AS | 4 | May 9, 2025 |
| PTPN11 | 1 | May 13, 2025 |
| SMAD3 | 1 | May 13, 2025 |
| TBX4 | 1 | May 13, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Aneurysm-osteoarthritis syndrome | 1 | May 13, 2025 |
| Bethlem myopathy 1B | 1 | May 13, 2025 |
| Boudin-Mortier syndrome | 1 | May 9, 2025 |
| Bruck syndrome 1 | 2 | May 13, 2025 |
| Charcot-Marie-Tooth disease, type IA | 1 | May 9, 2025 |
| Coxopodopatellar syndrome | 1 | May 13, 2025 |
| Dermatofibrosis lenticularis disseminata | 1 | May 13, 2025 |
| Epiphyseal dysplasia, multiple, 2 | 1 | May 9, 2025 |
| Exostoses, multiple, type 1 | 3 | Mar 5, 2025 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 6 | May 9, 2025 |
| Geroderma osteodysplastica | 1 | May 13, 2025 |
| Hypochondroplasia | 1 | May 9, 2025 |
| LEOPARD syndrome 1 | 1 | May 13, 2025 |
| Marfan syndrome | 3 | May 9, 2025 |
| Nail-patella syndrome | 1 | May 13, 2025 |
| Osteogenesis imperfecta type 5 | 1 | May 13, 2025 |
| Osteogenesis imperfecta type I | 15 | Jun 11, 2025 |
| Osteogenesis imperfecta type III | 4 | Jun 11, 2025 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 7 | Jun 11, 2025 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | May 13, 2025 |
| Stickler syndrome | 1 | Aug 9, 2024 |