Prenatal Genetic Diagnosis Laboratory (The Chinese University of Hong Kong)
General information
Prenatal Genetic Diagnosis Laboratory
The Chinese University of Hong Kong
Hong Kong
Hong Kong
http://cuhk.edu.hk/english/index.html
Organization ID: 507554
The Chinese University of Hong Kong
Hong Kong
Hong Kong
http://cuhk.edu.hk/english/index.html
Organization ID: 507554
Personnel
- Kwong Wai Choy, Lab Director
Phone: 852-35053099
Email: richardchoy@cuhk.edu.hk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Al-Gazali syndrome | 1 | Jul 4, 2024 |
Brain small vessel disease 1 with or without ocular anomalies | 1 | Apr 7, 2022 |
Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 1 | Jul 4, 2024 |
Noonan syndrome 1 | 1 | Apr 7, 2022 |
Noonan syndrome 3 | 1 | Apr 7, 2022 |
Primary ciliary dyskinesia 3 | 2 | Apr 7, 2022 |
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 1 | Jul 4, 2024 |