Laboratory of Diagnosis and Therapy of Lysosomal Disorders (University of Padova), LAB-DTLD
General information
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, LAB-DTLD
University of Padova
via Giustiniani, 3
Padova
Veneto
Italy - 35128
http://www.unipd.it/
Organization ID: 506414
University of Padova
via Giustiniani, 3
Padova
Veneto
Italy - 35128
http://www.unipd.it/
Organization ID: 506414
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 684
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ARSB | 202 | Apr 17, 2018 |
| CARD14 | 1 | Apr 18, 2019 |
| GALNS | 439 | Oct 28, 2021 |
| GLB1 | 2 | Apr 18, 2019 |
| GNS | 1 | Apr 18, 2019 |
| HGSNAT | 1 | Apr 18, 2019 |
| IDS | 11 | Apr 18, 2019 |
| IDUA | 7 | Apr 18, 2019 |
| LOC106050102 | 4 | Apr 18, 2019 |
| LOC126862447 | 19 | Oct 28, 2021 |
| LOC129994126 | 50 | Apr 17, 2018 |
| LOC130059762 | 21 | Oct 28, 2021 |
| LOC130060903 | 2 | Apr 18, 2019 |
| NAGLU | 7 | Apr 18, 2019 |
| SGSH | 14 | Apr 18, 2019 |
| SLC26A11 | 1 | Apr 18, 2019 |
| TRAPPC2L | 21 | Oct 28, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Mucopolysaccharidosis type 1 | 7 | Apr 18, 2019 |
| Mucopolysaccharidosis type 6 | 202 | Apr 17, 2018 |
| Mucopolysaccharidosis, MPS-II | 11 | Apr 18, 2019 |
| Mucopolysaccharidosis, MPS-III-A | 14 | Apr 18, 2019 |
| Mucopolysaccharidosis, MPS-III-B | 7 | Apr 18, 2019 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Apr 18, 2019 |
| Mucopolysaccharidosis, MPS-III-D | 1 | Apr 18, 2019 |
| Mucopolysaccharidosis, MPS-IV-A | 439 | Oct 28, 2021 |
| Mucopolysaccharidosis, MPS-IV-B | 2 | Apr 18, 2019 |