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 |