Department of Clinical Genetics (Medical University of Lodz)
General information
Department of Clinical Genetics
Medical University of Lodz
Pomorska street 251
Łódź
Poland - 92-213
https://umed.pl/zaklad-genetyki-klinicznej-metryka/
Organization ID: 509494
Medical University of Lodz
Pomorska street 251
Łódź
Poland - 92-213
https://umed.pl/zaklad-genetyki-klinicznej-metryka/
Organization ID: 509494
Personnel
- Tomasz Ploszaj, Variant scientist/curator
Phone: +48695991491
Email: tomasz.ploszaj@umed.lodz.pl - Sebastian Skoczylas, Variant scientist/curator
Phone: +48503654044
Email: sebastian.skoczylas@umed.lodz.pl
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| KCNQ2 | 1 | Mar 27, 2024 |
| KIF1A | 1 | Mar 26, 2024 |
| LOC102724058 | 1 | Mar 27, 2024 |
| LOC126806583 | 1 | Mar 26, 2024 |
| MT-TL2 | 1 | Mar 26, 2024 |
| PIGV | 1 | Mar 21, 2024 |
| SCN1A | 2 | Mar 27, 2024 |
| SCN3A | 1 | Mar 27, 2024 |
| SCN8A | 1 | Mar 27, 2024 |
| SYNE1 | 1 | Mar 27, 2024 |
| SYNGAP1 | 2 | Mar 22, 2024 |
| SYNGAP1-AS1 | 1 | Mar 20, 2024 |
| TBC1D24 | 1 | Mar 22, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Developmental and epileptic encephalopathy 6B | 1 | Mar 27, 2024 |
| Developmental and epileptic encephalopathy, 13 | 1 | Mar 27, 2024 |
| Developmental and epileptic encephalopathy, 62 | 1 | Mar 27, 2024 |
| Diabetes-deafness syndrome maternally transmitted | 1 | Mar 26, 2024 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Mar 27, 2024 |
| Familial infantile myoclonic epilepsy | 1 | Mar 22, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Mar 21, 2024 |
| Hereditary spastic paraplegia 30 | 1 | Mar 26, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 | Mar 21, 2024 |
| Intellectual disability, autosomal dominant 5 | 2 | Mar 22, 2024 |
| Seizures, benign familial neonatal, 1 | 1 | Mar 27, 2024 |