Department of Neurology
(Xijing Hospital, Fourth Military Medical University)
General information
Department of Neurology
Xijing Hospital, Fourth Military Medical University
Xi'an
China
Organization ID: 508669
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 43
Gene
| Gene | Submissions | Last Updated |
|---|
| ADCY5 | 1 | Jul 27, 2022 |
| ATM | 1 | Jul 27, 2022 |
| ATP1A2 | 1 | Jul 27, 2022 |
| C11orf65 | 1 | Jul 27, 2022 |
| CACNA1B | 4 | Jul 27, 2022 |
| CASD1 | 2 | Jul 27, 2022 |
| COL6A3 | 14 | Oct 22, 2022 |
| DCTN1 | 2 | Jul 27, 2022 |
| KCNA4 | 1 | Jul 27, 2022 |
| KMT2B | 3 | Jul 27, 2022 |
| LOC100133077 | 1 | Jul 27, 2022 |
| LOC129934069 | 2 | Jul 27, 2022 |
| LOC130065345 | 2 | Jul 27, 2022 |
| MIR6084 | 1 | Jul 27, 2022 |
| NKX2-1 | 1 | Jul 27, 2022 |
| PANK2 | 2 | Jul 27, 2022 |
| PINK1 | 1 | Jul 27, 2022 |
| PLA2G6 | 2 | Jul 27, 2022 |
| RAB12 | 1 | Aug 3, 2022 |
| SFTA3 | 1 | Jul 27, 2022 |
| SGCE | 2 | Jul 27, 2022 |
| SPR | 2 | Jul 27, 2022 |
| TBC1D24 | 1 | Jul 27, 2022 |
| TH | 1 | Jul 27, 2022 |
| THAP1 | 1 | Jul 27, 2022 |
| TUBB4A | 1 | Jul 27, 2022 |
| WDR45 | 1 | Jul 27, 2022 |
Condition
| Name | Submissions | Last Updated | | Ataxia-telangiectasia syndrome | 1 | Jul 27, 2022 |
| Autosomal recessive DOPA responsive dystonia | 1 | Jul 27, 2022 |
| Autosomal recessive Parkinson disease 14 | 2 | Jul 27, 2022 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | Jul 27, 2022 |
| Brain-lung-thyroid syndrome | 1 | Jul 27, 2022 |
| Developmental and epileptic encephalopathy 98 | 1 | Jul 27, 2022 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 2 | Jul 27, 2022 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | Jul 27, 2022 |
| Dystonia 27 | 14 | Oct 22, 2022 |
| Dystonia 28, childhood-onset | 3 | Jul 27, 2022 |
| Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | 1 | Jul 27, 2022 |
| Myoclonic dystonia 11 | 2 | Jul 27, 2022 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Jul 27, 2022 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 4 | Jul 27, 2022 |
| Perry syndrome | 2 | Jul 27, 2022 |
| Pigmentary pallidal degeneration | 2 | Jul 27, 2022 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 | Jul 27, 2022 |
| Torsion dystonia 4 | 1 | Jul 27, 2022 |
| Torsion dystonia 6 | 1 | Jul 27, 2022 |
| task-specific movement disorders | 1 | Aug 3, 2022 |
