Comprehensive Medical Genetic Center (Shiraz University of Medical Sciences), SUMS
General information
Comprehensive Medical Genetic Center, SUMS
Shiraz University of Medical Sciences
Zand St.
Shiraz
Fars
Iran - 71348-14336
http://www.gsia.sums.ac.ir/en
Organization ID: 507735
Shiraz University of Medical Sciences
Zand St.
Shiraz
Fars
Iran - 71348-14336
http://www.gsia.sums.ac.ir/en
Organization ID: 507735
Personnel
- Hossein Jafari, Genetic Counselor
Phone: +989359136655
Email: hosseinjk.1994@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 18
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACACA | 1 | Nov 19, 2022 |
| AP1B1 | 1 | Apr 7, 2021 |
| CEP63 | 1 | Feb 8, 2022 |
| CSNK2A1 | 1 | Apr 7, 2021 |
| CYP17A1 | 1 | Feb 23, 2021 |
| FCSK | 2 | Apr 8, 2021 |
| KY | 1 | Feb 8, 2022 |
| LOC123038188 | 1 | Feb 8, 2022 |
| MCM2 | 1 | Feb 1, 2022 |
| OTOF | 1 | Apr 21, 2022 |
| PEX11B | 1 | Feb 7, 2024 |
| PTRH2 | 1 | Feb 11, 2021 |
| RAB3GAP1 | 1 | Mar 20, 2021 |
| ST3GAL3 | 2 | Aug 20, 2021 |
| ST3GAL5 | 1 | Mar 20, 2021 |
| TPRN | 1 | Jul 20, 2022 |
| TULP3 | 1 | Jun 29, 2022 |
| YY1 | 1 | Jun 5, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acetyl-CoA: carboxylase deficiency | 1 | Nov 19, 2022 |
| Autosomal dominant nonsyndromic hearing loss 70 | 1 | Feb 1, 2022 |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | 1 | Apr 7, 2021 |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 | Jul 20, 2022 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | Apr 21, 2022 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 2 | Apr 8, 2021 |
| Deficiency of steroid 17-alpha-monooxygenase | 1 | Feb 23, 2021 |
| GM3 synthase deficiency | 1 | Mar 20, 2021 |
| Gabriele de Vries syndrome | 1 | Jun 5, 2021 |
| Hepatorenocardiac degenerative fibrosis | 1 | Jun 29, 2022 |
| Intellectual disability, autosomal recessive 12 | 2 | Aug 20, 2021 |
| Myofibrillar myopathy 7 | 1 | Feb 8, 2022 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 1 | Feb 11, 2021 |
| Okur-Chung neurodevelopmental syndrome | 1 | Apr 7, 2021 |
| Peroxisome biogenesis disorder 14B | 1 | Feb 7, 2024 |
| Warburg micro syndrome 1 | 1 | Mar 20, 2021 |