Dr. Faghihi's Medical Genetic Center (Shiraz University of Medical Sciences), FMGC
General information
Dr. Faghihi's Medical Genetic Center, FMGC
Shiraz University of Medical Sciences
Zand
Shiraz
Fars
Iran - 7134845794
http://www.shirazgenetics.ir
Organization ID: 505525
Shiraz University of Medical Sciences
Zand
Shiraz
Fars
Iran - 7134845794
http://www.shirazgenetics.ir
Organization ID: 505525
Personnel
- Hassan Dastsooz, Staff
Phone: +989179791749
Email: dastsouzh@sums.ac.ir
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | May 20, 2020 |
| Diamond-Blackfan anemia 6 | 1 | Jun 21, 2020 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Mar 28, 2017 |
| GM1 gangliosidosis type 2 | 1 | Jan 31, 2019 |
| Infantile neuroaxonal dystrophy | 1 | Jun 28, 2017 |
| Intellectual disability | 1 | Jan 30, 2020 |
| Junctional epidermolysis bullosa with pyloric atresia | 1 | Aug 31, 2015 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 | Dec 2, 2020 |
| Pigmentary pallidal degeneration | 1 | Apr 13, 2017 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 | May 20, 2020 |
| Wiskott-Aldrich syndrome | 1 | Jul 2, 2018 |