Pediatrics (MediClubGeorgia), MCG
General information
Personnel
- Otar Koniashvili, Staff
Phone: +995593506699
Email: [email protected] - Ekaterine Kurua, Staff
Phone: +995557366155
Email: [email protected] - Gia Melikishvili, Staff
Phone: +995599111133
Email: [email protected] - Mariam Melikishvili, Staff
Phone: +995551404411
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 20
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CACNA1A | 3 | Apr 26, 2021 |
| CDKL5 | 1 | May 20, 2022 |
| CHD2 | 3 | Mar 27, 2024 |
| CLCN1 | 1 | Jul 1, 2021 |
| DNM1 | 1 | Jan 15, 2021 |
| LOC102724058 | 1 | Jan 28, 2021 |
| LOC126862864 | 1 | Apr 26, 2021 |
| LOC126863256 | 1 | Nov 9, 2020 |
| PCDH19 | 1 | Feb 16, 2021 |
| PMM2 | 1 | Jan 11, 2021 |
| RHOBTB2 | 1 | Feb 10, 2021 |
| SCN1A | 2 | Jan 28, 2021 |
| SCN2A | 2 | Jan 7, 2021 |
| SNHG14 | 1 | Jan 27, 2021 |
| SPTAN1 | 1 | May 6, 2021 |
| STX1B | 1 | Jun 11, 2024 |
| UBE3A | 1 | Jan 27, 2021 |
| WDR45 | 1 | Nov 9, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Angelman syndrome | 1 | Jan 27, 2021 |
| Congenital myotonia, autosomal dominant form | 1 | Jul 1, 2021 |
| Developmental and epileptic encephalopathy 94 | 3 | Mar 27, 2024 |
| Developmental and epileptic encephalopathy, 11 | 2 | Jan 7, 2021 |
| Developmental and epileptic encephalopathy, 2 | 1 | May 20, 2022 |
| Developmental and epileptic encephalopathy, 31A | 1 | Jan 15, 2021 |
| Developmental and epileptic encephalopathy, 5 | 1 | May 6, 2021 |
| Developmental and epileptic encephalopathy, 64 | 1 | Feb 10, 2021 |
| Developmental and epileptic encephalopathy, 9 | 1 | Feb 16, 2021 |
| Episodic ataxia type 2 | 1 | Apr 26, 2021 |
| Focal impaired awareness seizure | 1 | Jan 27, 2021 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | Jun 11, 2024 |
| Migraine, familial hemiplegic, 1 | 2 | Jan 27, 2021 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Nov 9, 2020 |
| PMM2-congenital disorder of glycosylation | 1 | Jan 11, 2021 |
| Severe myoclonic epilepsy in infancy | 1 | Jan 28, 2021 |