Harry Perkins Institute Of Medical Research (University Of Western Australia), UWA
General information
Personnel
- Lein DOFASH, Variant scientist/curator
Phone: +61861510740
Email: lein.dofash@uwa.edu.au - Mridul JOHARI, Variant scientist/curator
Phone: +61861510740
Email: mridul.johari@uwa.edu.au - GINA RAVENSCROFT, Principal Investigator
Phone: +61861510740
Email: gina.ravenscroft@uwa.edu.au
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 60
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Actin accumulation myopathy | 10 | Oct 11, 2023 |
| Arthrogryposis multiplex congenita | 3 | Apr 17, 2015 |
| Brachydactyly type E1 | 1 | Sep 5, 2024 |
| Centronuclear myopathy | 1 | Oct 11, 2023 |
| Congenital myopathy | 7 | Feb 28, 2024 |
| Congenital myopathy with fiber type disproportion | 2 | Oct 11, 2023 |
| Distal myopathy | 1 | Jan 8, 2024 |
| Fetal akinesia | 1 | Oct 11, 2023 |
| Fetal akinesia deformation sequence | 1 | Oct 11, 2023 |
| Intranuclear rod myopathy | 1 | Oct 11, 2023 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 3 | May 7, 2024 |
| Myopathy | 4 | Oct 11, 2023 |
| Myopathy, sarcoplasmic body | 1 | Feb 4, 2019 |
| Nemaline myopathy | 6 | Oct 11, 2023 |
| Neuromuscular disease | 4 | Oct 11, 2023 |
| Primary dilated cardiomyopathy | 2 | Oct 11, 2023 |
| Ptosis | 1 | Sep 20, 2023 |
| Rigid spine syndrome | 7 | Sep 26, 2023 |
| not provided | 4 | Oct 11, 2023 |