Neuromuscular Department, Shariati Hospital (Tehran University of Medical Sciences), TUMS
General information
Personnel
- Farzad Fatehi, Lab Associate Director
Phone: 00989128186300
Email: fatehifa@gmail.com - Shahriar Nafissi, Lab Director
Phone: 00989121060727
Email: s_nafissi@yahoo.com - Ali Asghar Okhovat, Principal Investigator
Phone: 00989113535133
Email: aliokhi20@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 40
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACADVL | 5 | Mar 7, 2020 |
| ALG2 | 1 | Jan 4, 2021 |
| C17orf107 | 1 | Dec 16, 2020 |
| CHAT | 1 | Jan 4, 2021 |
| CHRNE | 2 | Jan 4, 2021 |
| COL6A2 | 3 | Oct 20, 2020 |
| COLQ | 11 | Aug 17, 2023 |
| DHTKD1 | 1 | May 26, 2020 |
| DNAJB6 | 1 | Oct 7, 2020 |
| DOK7 | 2 | Jun 15, 2021 |
| DYSF | 1 | Oct 31, 2020 |
| LOC107303340 | 1 | Jan 4, 2021 |
| LOC129992118 | 1 | Jun 15, 2021 |
| LOC130005097 | 1 | Sep 6, 2020 |
| LYRM7 | 1 | Aug 16, 2023 |
| OBSCN | 2 | Mar 2, 2023 |
| PNPLA2 | 4 | Jun 11, 2021 |
| RAPSN | 1 | Oct 7, 2020 |
| SH3TC2 | 2 | May 30, 2021 |
| SPG7 | 1 | Oct 19, 2021 |
| VHL | 1 | Jan 4, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Oct 7, 2020 |
| Bethlem myopathy | 3 | Oct 20, 2020 |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 | May 26, 2020 |
| Charcot-Marie-Tooth disease type 4C | 2 | May 30, 2021 |
| Congenital myasthenic syndrome | 1 | Dec 16, 2020 |
| Congenital myasthenic syndrome 10 | 2 | Jun 15, 2021 |
| Congenital myasthenic syndrome 11 | 1 | Oct 7, 2020 |
| Congenital myasthenic syndrome 14 | 1 | Jan 4, 2021 |
| Congenital myasthenic syndrome 4C | 1 | Jan 4, 2021 |
| Congenital myasthenic syndrome 5 | 2 | Jan 4, 2021 |
| Familial infantile myasthenia | 2 | Jan 4, 2021 |
| Hearing loss, autosomal recessive 120 | 1 | Mar 2, 2023 |
| Hereditary spastic paraplegia 7 | 1 | Oct 19, 2021 |
| Mitochondrial complex III deficiency nuclear type 1 | 1 | Aug 16, 2023 |
| Miyoshi muscular dystrophy 1 | 1 | Oct 31, 2020 |
| Neutral lipid storage myopathy | 4 | Jun 11, 2021 |
| Rhabdomyolysis, susceptibility to, 1 | 1 | Mar 2, 2023 |
| Synaptic congenital myasthenic syndrome | 9 | Aug 17, 2023 |
| Very long chain acyl-CoA dehydrogenase deficiency | 5 | Mar 7, 2020 |