Istituto Neurologico Mediterraneo (Istituto di Ricovero e Cura a Carattere Scientifico)
General information
Istituto Neurologico Mediterraneo
Istituto di Ricovero e Cura a Carattere Scientifico
C/Da camerelle
Pozzilli
Molise
Italy - 86077
https://www.neuromed.it
Organization ID: 507115
Istituto di Ricovero e Cura a Carattere Scientifico
C/Da camerelle
Pozzilli
Molise
Italy - 86077
https://www.neuromed.it
Organization ID: 507115
Personnel
- Rosangela Ferese, Lab Associate Director
Phone: 0865929660
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ataxia - oculomotor apraxia type 4 | 1 | Oct 17, 2019 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Aug 3, 2020 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Aug 3, 2020 |
| Charcot-Marie-Tooth disease axonal type 2O | 2 | Aug 3, 2020 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Aug 3, 2020 |
| Charcot-Marie-Tooth disease type 2B2 | 1 | Aug 3, 2020 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Aug 3, 2020 |
| Charcot-Marie-Tooth disease, type IA | 1 | Aug 27, 2020 |
| Hereditary spastic paraplegia 10 | 2 | Sep 3, 2024 |
| Hereditary spastic paraplegia 4 | 5 | Mar 28, 2022 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 | Jul 31, 2019 |
| Menkes kinky-hair syndrome | 1 | Sep 27, 2019 |
| Sterol carrier protein 2 deficiency | 1 | Aug 26, 2020 |
| Torsion dystonia 4 | 1 | Oct 14, 2019 |
| Tuberous sclerosis 2 | 1 | Sep 27, 2019 |