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 |