Center for Comprehensive Genetic Services (Shahid Beheshti University of Medical Sciences)
General information
Center for Comprehensive Genetic Services
Shahid Beheshti University of Medical Sciences
Taleghani General Hospital, Araabi St., Yaman Ave.
Velenjak, Evin
Tehran
Tehran
Iran - 1985717413
http://ccgs.sbmu.ac.ir/
Organization ID: 505783
Shahid Beheshti University of Medical Sciences
Taleghani General Hospital, Araabi St., Yaman Ave.
Velenjak, Evin
Tehran
Tehran
Iran - 1985717413
http://ccgs.sbmu.ac.ir/
Organization ID: 505783
Personnel
- Farzad Hashemi-Gorji, Informatics staff
Phone: 02122439959
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Biotin-responsive basal ganglia disease | 1 | Jun 1, 2023 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Jun 1, 2023 |
| Duchenne muscular dystrophy | 1 | Mar 16, 2022 |
| Nephrotic syndrome, type 3 | 1 | Sep 30, 2023 |
| Pontocerebellar hypoplasia type 10 | 2 | May 31, 2023 |
| Pontocerebellar hypoplasia type 2D | 1 | May 31, 2023 |
| Pontocerebellar hypoplasia type 4 | 1 | Jun 1, 2023 |
| Pontocerebellar hypoplasia type 7 | 1 | Jun 9, 2023 |
| Pontocerebellar hypoplasia type 9 | 1 | May 30, 2023 |
| Pontocerebellar hypoplasia, type 11 | 1 | Jun 1, 2023 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Sep 17, 2023 |
| Temporomandibular joint disorder | 1 | Jul 6, 2023 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Autoimmune lymphoproliferative syndrome type 1 | 1 test |
| Autosomal hypohidrotic ectodermal dysplasia | 2 tests |
| Beta thalassemia intermedia | 1 test |
| Beta-thalassemia major | 1 test |
| Breast cancer, early-onset | 1 test |
| Breast cancer, familial male | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 test |
| Charcot-Marie-Tooth disease type 2B1 | 1 test |
| Chromosome 16 trisomy | 1 test |
| Chromosome 22q11.2 deletion syndrome, distal | 1 test |
| Chromosome 22q11.2 microduplication syndrome | 1 test |
| Complete trisomy 13 syndrome | 1 test |
| Congenital muscular dystrophy due to LMNA mutation | 1 test |
| Cystic fibrosis | 1 test |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
| Dilated cardiomyopathy 1A | 1 test |
| Down syndrome | 1 test |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 1 test |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 test |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 1 test |
| Fanconi anemia | 1 test |
| Glucocorticoid deficiency with achalasia | 1 test |
| Hb SS disease | 1 test |
| Heart-hand syndrome, Slovenian type | 1 test |
| Hemoglobin Bart hydrops syndrome | 1 test |
| Hemoglobin H disease | 1 test |
| Hereditary breast ovarian cancer syndrome | 1 test |
| Hereditary thrombophilia | 1 test |
| Huntington disease | 1 test |
| Hutchinson-Gilford progeria syndrome, childhood-onset | 1 test |
| Lethal tight skin contracture syndrome | 1 test |
| Lissencephaly due to LIS1 mutation | 1 test |
| MTHFR THERMOLABILE POLYMORPHISM | 1 test |
| Mandibuloacral dysplasia with type A lipodystrophy | 1 test |
| Miller Dieker syndrome | 1 test |
| Prader-Willi syndrome | 1 test |
| Smith-Magenis syndrome | 1 test |
| Steinert myotonic dystrophy syndrome | 1 test |
| Succinate-semialdehyde dehydrogenase deficiency | 1 test |
| Thalassemia intermedia | 1 test |
| Thalassemia minor | 1 test |
| Thrombophilia due to activated protein C resistance | 1 test |
| Thrombophilia due to thrombin defect | 1 test |
| Thrombophilia, familial, due to decreased release of tissue plasminogen activator | 1 test |
| Trisomy 18 | 1 test |
| Turner syndrome | 1 test |
| Williams syndrome | 1 test |
| alpha Thalassemia | 1 test |