O&I group, Department of Genetics (University Medical Center of Groningen)
General information
Personnel
- Helga Westers, Staff
Phone: +31-652724566
Email: h.westers@umcg.nl
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 58
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AFG3L2 | 2 | Sep 21, 2021 |
| ATXN10 | 1 | Sep 21, 2021 |
| ATXN2 | 1 | Sep 21, 2021 |
| ATXN7 | 1 | Sep 21, 2021 |
| CACNA1A | 10 | Sep 21, 2021 |
| CACNA1G | 1 | Sep 21, 2021 |
| CCDC88C | 1 | Sep 21, 2021 |
| DAB1 | 1 | Sep 21, 2021 |
| ELOVL5 | 1 | Sep 21, 2021 |
| EP300 | 1 | Sep 21, 2021 |
| FAT1 | 7 | Sep 21, 2021 |
| FAT2 | 3 | Sep 21, 2021 |
| GRM1 | 2 | Sep 21, 2021 |
| KCNC3 | 5 | Sep 21, 2021 |
| KCND3 | 3 | Sep 21, 2021 |
| KIF26B | 4 | Sep 21, 2021 |
| LOC126807255 | 1 | Sep 21, 2021 |
| MME | 1 | Sep 21, 2021 |
| NOP56 | 1 | Sep 21, 2021 |
| PDYN | 2 | Sep 21, 2021 |
| PDYN-AS1 | 2 | Sep 21, 2021 |
| PRKCG | 2 | Sep 21, 2021 |
| SLC36A1 | 3 | Sep 21, 2021 |
| SPTBN2 | 3 | Sep 21, 2021 |
| TGM6 | 3 | Sep 21, 2021 |
| TRPC3 | 1 | Sep 21, 2021 |
| TTBK2 | 1 | Sep 21, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant cerebellar ataxia | 12 | Sep 21, 2021 |
| Spinocerebellar ataxia 43 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia 44 | 2 | Sep 21, 2021 |
| Spinocerebellar ataxia 45 | 3 | Sep 21, 2021 |
| Spinocerebellar ataxia 7 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 10 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 11 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 13 | 5 | Sep 21, 2021 |
| Spinocerebellar ataxia type 14 | 2 | Sep 21, 2021 |
| Spinocerebellar ataxia type 19/22 | 3 | Sep 21, 2021 |
| Spinocerebellar ataxia type 2 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 23 | 2 | Sep 21, 2021 |
| Spinocerebellar ataxia type 28 | 2 | Sep 21, 2021 |
| Spinocerebellar ataxia type 35 | 3 | Sep 21, 2021 |
| Spinocerebellar ataxia type 36 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 37 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 38 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 40 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 41 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 42 | 1 | Sep 21, 2021 |
| Spinocerebellar ataxia type 5 | 3 | Sep 21, 2021 |
| Spinocerebellar ataxia type 6 | 10 | Sep 21, 2021 |