Molecular Biology Laboratory, Department of Zoology (Quaid-I-Azam University)
General information
Personnel
- Sabika Firasat, Principal Investigator
Phone: +9290644410
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 26
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA5 | 1 | Mar 27, 2023 |
| ALDOB | 1 | Mar 29, 2023 |
| BLTP1 | 1 | Mar 27, 2023 |
| BTD | 1 | Jul 13, 2023 |
| GAA | 1 | Mar 27, 2023 |
| GALNS | 5 | Jul 13, 2023 |
| GNPTG | 1 | Jul 13, 2023 |
| HERC1 | 1 | Mar 27, 2023 |
| IDS | 3 | Mar 27, 2023 |
| IDUA | 1 | Mar 29, 2023 |
| LOC106050102 | 2 | Mar 27, 2023 |
| LOC108281160 | 1 | Mar 27, 2023 |
| LOC126862447 | 1 | Jul 13, 2023 |
| LOC130059762 | 1 | Jul 13, 2023 |
| MASP1 | 1 | Mar 27, 2023 |
| NAGLU | 1 | Jul 13, 2023 |
| RRAS2 | 1 | Mar 24, 2023 |
| SGSH | 5 | Jul 13, 2023 |
| SMARCAL1 | 1 | Mar 27, 2023 |
| TRAPPC2L | 1 | Jul 13, 2023 |
| VWA3B | 1 | Jul 13, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3MC syndrome 1 | 1 | Mar 27, 2023 |
| Alkuraya-Kucinskas syndrome | 1 | Mar 27, 2023 |
| Biotinidase deficiency | 1 | Jul 13, 2023 |
| GNPTG-mucolipidosis | 1 | Jul 13, 2023 |
| Gingival fibromatosis-hypertrichosis syndrome | 1 | Mar 27, 2023 |
| Glycogen storage disease, type II | 1 | Mar 27, 2023 |
| Hereditary fructosuria | 1 | Mar 29, 2023 |
| Hurler syndrome | 1 | Mar 29, 2023 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | Mar 27, 2023 |
| Mucopolysaccharidosis, MPS-II | 3 | Mar 27, 2023 |
| Mucopolysaccharidosis, MPS-III-A | 5 | Jul 13, 2023 |
| Mucopolysaccharidosis, MPS-III-B | 1 | Jul 13, 2023 |
| Mucopolysaccharidosis, MPS-IV-A | 5 | Jul 13, 2023 |
| Noonan syndrome 12 | 1 | Mar 24, 2023 |
| Schimke immuno-osseous dysplasia | 1 | Mar 27, 2023 |
| Spinocerebellar ataxia, autosomal recessive 22 | 1 | Jul 13, 2023 |