Neurogenetics Department (Cyprus Institute of Neurology and Genetics), CFMDR
General information
Neurogenetics Department, CFMDR
Cyprus Institute of Neurology and Genetics
Ayios Dhometios
Nicosia
Cyprus - 2370
http://www.cing.ac.cy/easyconsole.cfm/id/362
Organization ID: 78596
Cyprus Institute of Neurology and Genetics
Ayios Dhometios
Nicosia
Cyprus - 2370
http://www.cing.ac.cy/easyconsole.cfm/id/362
Organization ID: 78596
Personnel
- Kyproula Christodoulou, Lab Director
Phone: +357-22392649
Email: roula@cing.ac.cy - Paschalis Nicolaou, Principal Investigator
Phone: +357-22392609
Email: paschali@cing.ac.cy
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Ceroid lipofuscinosis, neuronal, 6A | 1 | Jul 20, 2021 |
Neurodegeneration with brain iron accumulation 5 | 1 | Jun 20, 2019 |
Werdnig-Hoffmann disease | 1 | Jul 10, 2023 |
Testing in GTR
Disease name | Number of tests |
---|---|
Amyotrophic lateral sclerosis type 1 | 1 test |
Amyotrophic lateral sclerosis type 10 | 1 test |
Amyotrophic lateral sclerosis type 6 | 1 test |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
Autosomal dominant Parkinson disease 8 | 1 test |
Azorean disease | 2 tests |
Charcot-Marie-Tooth Neuropathy Type 2H/2K | 1 test |
Charcot-Marie-Tooth disease X-linked dominant 1 | 1 test |
Charcot-Marie-Tooth disease type 1B | 1 test |
Charcot-Marie-Tooth disease type 1D | 1 test |
Charcot-Marie-Tooth disease type 1E | 1 test |
Charcot-Marie-Tooth disease type 1F | 1 test |
Charcot-Marie-Tooth disease type 2A2 | 1 test |
Charcot-Marie-Tooth disease type 2B1 | 1 test |
Charcot-Marie-Tooth disease, type IA | 1 test |
Dentatorubral-pallidoluysian atrophy | 1 test |
Familial amyloid neuropathy | 2 tests |
Friedreich ataxia 1 | 1 test |
Hereditary spastic paraplegia 31 | 1 test |
Hereditary spastic paraplegia 3A | 2 tests |
Hereditary spastic paraplegia 4 | 2 tests |
Hereditary spastic paraplegia 44 | 1 test |
Huntington disease | 1 test |
Kennedy disease | 1 test |
Neuronopathy, distal hereditary motor, autosomal recessive 5 | 1 test |
Neuronopathy, distal hereditary motor, type 5A | 1 test |
Spinal muscular atrophy | 1 test |
Spinocerebellar ataxia 7 | 2 tests |
Spinocerebellar ataxia type 1 | 2 tests |
Spinocerebellar ataxia type 10 | 1 test |
Spinocerebellar ataxia type 12 | 1 test |
Spinocerebellar ataxia type 17 | 1 test |
Spinocerebellar ataxia type 2 | 2 tests |
Spinocerebellar ataxia type 6 | 2 tests |
Spinocerebellar ataxia type 8 | 1 test |
Steinert myotonic dystrophy syndrome | 1 test |