Unit for Genetic & Epidemiological Research on Neurological Disorders (Instituto de Investigação e Inovação em Saúde)
General information
Unit for Genetic & Epidemiological Research on Neurological Disorders
Instituto de Investigação e Inovação em Saúde
Rua Alfredo Allen, 208
Porto
Porto
Portugal - 4200-135
http://www.i3s.up.pt/
Organization ID: 506106
Instituto de Investigação e Inovação em Saúde
Rua Alfredo Allen, 208
Porto
Porto
Portugal - 4200-135
http://www.i3s.up.pt/
Organization ID: 506106
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 70
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALS2 | 2 | Mar 10, 2017 |
| AMPD2 | 2 | Mar 10, 2017 |
| AP4B1 | 1 | Mar 10, 2017 |
| AP4B1-AS1 | 1 | Mar 10, 2017 |
| AP4M1 | 1 | Mar 10, 2017 |
| AP5B1 | 3 | Mar 10, 2017 |
| AP5Z1 | 5 | Mar 10, 2017 |
| ARHGAP9 | 1 | Mar 10, 2017 |
| ARSI | 2 | Mar 10, 2017 |
| BICD2 | 2 | Mar 10, 2017 |
| BSCL2 | 2 | Mar 10, 2017 |
| C19orf12 | 1 | Mar 10, 2017 |
| CCT5 | 1 | Mar 10, 2017 |
| CYP7B1 | 3 | Mar 10, 2017 |
| ERLIN2 | 1 | Mar 10, 2017 |
| FLRT1 | 1 | Mar 10, 2017 |
| GAD1 | 1 | Mar 10, 2017 |
| GBA2 | 2 | Mar 10, 2017 |
| HNRNPUL2-BSCL2 | 2 | Mar 10, 2017 |
| HSPD1 | 1 | Mar 10, 2017 |
| INCA1 | 1 | Mar 10, 2017 |
| KIF1A | 1 | Mar 10, 2017 |
| KIF1C | 4 | Mar 10, 2017 |
| KIF5A | 5 | Mar 10, 2017 |
| LOC126805822 | 1 | Mar 10, 2017 |
| LOC130056709 | 1 | Mar 10, 2017 |
| MACROD1 | 1 | Mar 10, 2017 |
| MAG | 3 | Mar 10, 2017 |
| MARS1 | 1 | Mar 10, 2017 |
| NIPA1 | 2 | Mar 10, 2017 |
| REEP1 | 1 | Mar 10, 2017 |
| SACS | 4 | Mar 10, 2017 |
| SETX | 3 | Mar 10, 2017 |
| SLC16A2 | 1 | Mar 10, 2017 |
| SPAST | 1 | Mar 10, 2017 |
| SPG11 | 4 | Mar 10, 2017 |
| SPG7 | 6 | Mar 10, 2017 |
| WDR48 | 1 | Mar 10, 2017 |
| ZFYVE26 | 2 | Mar 10, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hereditary spastic paraplegia | 70 | Mar 10, 2017 |