Tehran Medical Genetics Laboratory
General information
Tehran Medical Genetics Laboratory
Tehran
Iran
http://www.geneticlab.ir/Home/Index
Organization ID: 506617
Tehran
Iran
http://www.geneticlab.ir/Home/Index
Organization ID: 506617
Personnel
- Mohammad Taghi Akbari, Lab Director
Phone: 00982188896869
Email: akbarimt@gmail.com - nooshin asgari, Informatics staff
Phone: 00989123992397
Email: nooshin.asgari@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 17
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CA8 | 1 | Apr 25, 2018 |
| CLN5 | 1 | Apr 25, 2018 |
| CNGA3 | 1 | Dec 20, 2018 |
| DMD | 2 | Apr 26, 2018 |
| DSG1 | 1 | Feb 28, 2018 |
| DYSF | 1 | Mar 6, 2018 |
| FBXL3 | 1 | Apr 25, 2018 |
| FOXL2 | 1 | Nov 19, 2016 |
| GAA | 1 | Apr 28, 2018 |
| NPHS2 | 1 | Feb 28, 2018 |
| OTOGL | 1 | Feb 28, 2018 |
| PKP1 | 1 | Feb 28, 2018 |
| TCAP | 1 | Apr 20, 2018 |
| TMPRSS15 | 1 | May 1, 2018 |
| TRIOBP | 1 | Feb 28, 2018 |
| WWOX | 1 | Feb 28, 2018 |
| ZNF711 | 1 | Feb 28, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Achromatopsia 2 | 1 | Dec 20, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Mar 6, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Apr 20, 2018 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Feb 28, 2018 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | Feb 28, 2018 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Nov 19, 2016 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 1 | Apr 25, 2018 |
| Developmental and epileptic encephalopathy, 28 | 1 | Feb 28, 2018 |
| Duchenne muscular dystrophy | 2 | Apr 26, 2018 |
| Enterokinase deficiency | 1 | May 1, 2018 |
| Epidermolysis bullosa simplex due to plakophilin deficiency | 1 | Feb 28, 2018 |
| Glycogen storage disease, type II | 1 | Apr 28, 2018 |
| Intellectual disability, X-linked 97 | 1 | Feb 28, 2018 |
| Nephrotic syndrome, type 2 | 1 | Feb 28, 2018 |
| Neuronal ceroid lipofuscinosis 5 | 1 | Apr 25, 2018 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 | Feb 28, 2018 |