Neurogenetics Laboratory - MEYER (AOU Meyer), NGL-MEYER
General information
Neurogenetics Laboratory - MEYER, NGL-MEYER
AOU Meyer
Viale Pieraccini 24
Florence
Toscana
Italy - 50139
http://www.meyer.it
Organization ID: 505994
AOU Meyer
Viale Pieraccini 24
Florence
Toscana
Italy - 50139
http://www.meyer.it
Organization ID: 505994
Personnel
- Elena Parrini, Lab Director
Phone: 00390555662844662844
Email: [email protected] - Elena Cellini, Staff
Phone: 00390555662844
Email: [email protected] - Valentina Cetica, Staff
Phone: 00390555662844
Email: [email protected] - Davide Mei, Staff
Phone: 00390555662844
Email: [email protected] - Annalisa Vetro, Staff
Phone: 00390555662844
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 71
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATP1A2 | 1 | Nov 16, 2016 |
| CACNA1H | 1 | Nov 16, 2016 |
| CDKL5 | 5 | Nov 16, 2016 |
| DEPDC5 | 1 | Nov 16, 2016 |
| GABRB3 | 2 | Nov 16, 2016 |
| GABRD | 1 | Nov 16, 2016 |
| GRIN2A | 4 | Nov 16, 2016 |
| GRIN2B | 2 | Nov 16, 2016 |
| HCN1 | 2 | Nov 16, 2016 |
| KCNQ2 | 7 | Nov 16, 2016 |
| KCNT1 | 4 | Nov 16, 2016 |
| LOC102724058 | 4 | Nov 16, 2016 |
| MECP2 | 4 | Nov 16, 2016 |
| RPS6 | 1 | May 22, 2019 |
| RS1 | 1 | Nov 16, 2016 |
| SCN1A | 8 | Nov 16, 2016 |
| SCN2A | 9 | Nov 16, 2016 |
| SCN8A | 6 | Nov 16, 2016 |
| SEMA6B | 1 | Jan 18, 2022 |
| SNHG14 | 2 | Jun 23, 2021 |
| SPTAN1 | 2 | Nov 16, 2016 |
| STXBP1 | 6 | Nov 16, 2016 |
| SYNGAP1 | 2 | Nov 16, 2016 |
| UBE3A | 2 | Jun 23, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Angelman syndrome | 2 | Jun 23, 2021 |
| Continuous spike and waves during slow sleep | 1 | Nov 16, 2016 |
| Epileptic encephalopathy | 44 | Nov 16, 2016 |
| Focal epilepsy | 8 | Nov 16, 2016 |
| Hemimegalencephaly | 1 | May 22, 2019 |
| Intellectual disability, autosomal dominant 5 | 1 | Nov 16, 2016 |
| Landau-Kleffner syndrome | 2 | Nov 16, 2016 |
| Malignant migrating partial seizures of infancy | 3 | Nov 16, 2016 |
| Myoclonic-astatic epilepsy | 1 | Jan 18, 2022 |
| Rett syndrome | 2 | Nov 16, 2016 |
| Severe myoclonic epilepsy in infancy | 6 | Nov 16, 2016 |