Dept. of Medical Genetics, Telemark Hospital Trust (Telemark Hospital Trust), STHF
General information
Dept. of Medical Genetics, Telemark Hospital Trust, STHF
Telemark Hospital Trust
Ulefossv 55
Skien
Telemark
Norway - 3710
https://www.sthf.no/
Organization ID: 506543
Telemark Hospital Trust
Ulefossv 55
Skien
Telemark
Norway - 3710
https://www.sthf.no/
Organization ID: 506543
Personnel
- Helle Høyer, Principal Investigator
Phone: +4735003500
Email: helhoe@sthf.no - Øyvind Busk, Principal Investigator
Phone: +4735003500
Email: oyvind.busk@sthf.no - Oystein Holla, Principal Investigator
Phone: +4735003146
Email: oholla@sthf.no - Helle Høyer, Principal Investigator
Phone: +4735003500
Email: helhoe@sthf.no - Kristian Tveten, Principal Investigator
Phone: +4735003500
Email: ktveten@sthf.no
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 68
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS1 | 2 | Apr 22, 2021 |
| ANXA11 | 3 | Mar 9, 2022 |
| ARHGEF10 | 2 | Oct 31, 2014 |
| ARSK | 1 | Mar 7, 2022 |
| ATL1 | 1 | Apr 23, 2021 |
| C9orf72 | 2 | Mar 9, 2022 |
| CCNF | 2 | Mar 9, 2022 |
| CNTNAP2 | 1 | Oct 3, 2014 |
| DAO | 1 | Mar 9, 2022 |
| DCTN1 | 1 | Oct 31, 2014 |
| DCTN2 | 1 | Dec 14, 2015 |
| DNM2 | 1 | Oct 31, 2014 |
| DYNC1H1 | 1 | Oct 31, 2014 |
| ERBB4 | 1 | Mar 9, 2022 |
| FIG4 | 2 | Mar 9, 2022 |
| GAN | 3 | Oct 31, 2014 |
| GARS1 | 1 | Oct 23, 2014 |
| GJB1 | 1 | Oct 31, 2014 |
| GLE1 | 1 | Mar 9, 2022 |
| GLT8D1 | 1 | Mar 9, 2022 |
| HSPB1 | 1 | Oct 31, 2014 |
| KIF1B | 1 | Oct 31, 2014 |
| KIF5A | 1 | Mar 9, 2022 |
| LAMA2 | 1 | Oct 3, 2014 |
| LMNA | 1 | Oct 31, 2014 |
| LOC101929270 | 1 | Mar 9, 2022 |
| LOC105371050 | 1 | Mar 9, 2022 |
| LOC109504728 | 2 | Mar 9, 2022 |
| LOC126860281 | 1 | Oct 31, 2014 |
| LOC126860782 | 1 | Mar 9, 2022 |
| LOC129929032 | 2 | Mar 9, 2022 |
| LOC130059498 | 1 | Oct 31, 2014 |
| MATR3 | 2 | Mar 9, 2022 |
| MFN2 | 1 | Oct 31, 2014 |
| MTMR2 | 2 | Oct 31, 2014 |
| OPTN | 2 | Mar 9, 2022 |
| PFN1 | 1 | Mar 9, 2022 |
| POLG | 1 | Aug 6, 2015 |
| POLGARF | 1 | Aug 6, 2015 |
| REEP1 | 1 | Jun 20, 2018 |
| RPL13 | 1 | Jul 18, 2022 |
| SEMA5A | 1 | Oct 3, 2014 |
| SEPTIN9 | 1 | Oct 31, 2014 |
| SETX | 8 | Mar 9, 2022 |
| SH3TC2 | 3 | Oct 31, 2014 |
| SLC12A6 | 1 | Dec 18, 2021 |
| SOD1 | 5 | Mar 9, 2022 |
| SOD1-DT | 1 | Mar 9, 2022 |
| SPTLC1 | 1 | Mar 9, 2022 |
| TBK1 | 2 | Mar 9, 2022 |
| TUBA4A | 1 | Mar 9, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Amyotrophic lateral sclerosis | 33 | Mar 9, 2022 |
| Charcot-Marie-Tooth disease | 29 | Jun 20, 2018 |
| Mucopolysaccharidosis, type 10 | 1 | Mar 7, 2022 |
| Peripheral neuropathy | 2 | Dec 18, 2021 |
| Spastic paraplegia | 1 | Apr 23, 2021 |
| Spasticity | 1 | Jun 20, 2018 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 1 | Jul 18, 2022 |