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: 51
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Actin accumulation myopathy | 10 | Oct 11, 2023 |
Arthrogryposis multiplex congenita | 3 | Apr 17, 2015 |
Centronuclear myopathy | 1 | Oct 11, 2023 |
Congenital myopathy | 3 | Oct 11, 2023 |
Congenital myopathy with fiber type disproportion | 2 | Oct 11, 2023 |
Fetal akinesia | 1 | Oct 11, 2023 |
Fetal akinesia deformation sequence | 1 | Oct 11, 2023 |
Intranuclear rod myopathy | 1 | Oct 11, 2023 |
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 |