Department of Paediatrics and Adolescent Medicine (The University of Hong Kong), UPAM
General information
Department of Paediatrics and Adolescent Medicine, UPAM
The University of Hong Kong
Room 115, New Clinical Building, Queen Mary Hospital, 102 Pokfulam Road
Pokfulam
Hong Kong
http://paed.hku.hk
Organization ID: 507009
The University of Hong Kong
Room 115, New Clinical Building, Queen Mary Hospital, 102 Pokfulam Road
Pokfulam
Hong Kong
http://paed.hku.hk
Organization ID: 507009
Personnel
- Brian Chung, Medical Director
Phone: (852) 2255-4295
Email: bhychung@hku.hk - Kit San Yeung, Lab Director
Phone: (852) 2255-4295
Email: jsks.kit@gmail.com - Mullin Yu, Informatics staff
Phone: (852) 2255-4295
Email: mullin.yu@gmail.com
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
Summary of submissions to ClinVar
Total submissions: 18
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alternating hemiplegia of childhood 2 | 1 | Jun 3, 2020 |
| Developmental and epileptic encephalopathy, 5 | 2 | Jun 3, 2020 |
| Dystonia 12 | 1 | Jun 3, 2020 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Jun 3, 2020 |
| Intellectual disability, autosomal dominant 42 | 1 | Jun 3, 2020 |
| Marshall syndrome | 1 | Jun 3, 2020 |
| Nemaline myopathy 8 | 1 | Jul 8, 2020 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 2 | Aug 27, 2019 |
| Noonan syndrome 1 | 1 | Jun 3, 2020 |
| Primary coenzyme Q10 deficiency 8 | 2 | Jun 3, 2020 |
| Schuurs-Hoeijmakers syndrome | 1 | Jun 3, 2020 |
| Stickler syndrome type 2 | 1 | Jun 3, 2020 |
| Structural heart defects and renal anomalies syndrome | 2 | Aug 16, 2021 |
| Trichohepatoenteric syndrome 2 | 2 | Jun 3, 2020 |
| not provided | 1 | Jun 3, 2020 |