Research Group Niklas Dahl (Uppsala University)
General information
Research Group Niklas Dahl
Uppsala University
Box 815
Uppsala
Sweden - 75108
http://www.igp.uu.se/research/genetics_genomics/niklas_dahl/
Organization ID: 505896
Uppsala University
Box 815
Uppsala
Sweden - 75108
http://www.igp.uu.se/research/genetics_genomics/niklas_dahl/
Organization ID: 505896
Personnel
- Joakim Klar, Contact
Phone: +46184714853
Email: joakim.klar@igp.uu.se
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 16 | 2 | Sep 26, 2018 |
| Autosomal recessive spinocerebellar ataxia 18 | 1 | May 4, 2017 |
| Cerebellar ataxia | 2 | Nov 16, 2020 |
| Diamond-Blackfan anemia 8 | 1 | Oct 22, 2019 |
| Intellectual disability | 4 | Nov 16, 2020 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 1 | Sep 18, 2018 |
| Neurodevelopmental delay | 4 | Nov 16, 2020 |
| Seizure | 1 | Nov 16, 2020 |
| Spinocerebellar ataxia type 29 | 1 | Aug 17, 2016 |