Cirak Lab (University Hospital Cologne)
General information
Personnel
- Sebahattin Cirak, Principal Investigator
Phone: 004922147889680
Email: Sebahattin.Cirak@uk-koeln.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 84
Gene
Gene | Submissions | Last Updated |
---|---|---|
ACTA1 | 1 | Aug 20, 2019 |
ADSS1 | 1 | Aug 20, 2019 |
ALDH5A1 | 1 | Aug 20, 2019 |
ALS2 | 7 | Oct 30, 2019 |
ASAH1 | 2 | Aug 20, 2019 |
ASCC1 | 2 | Feb 25, 2020 |
ASPM | 2 | Aug 20, 2019 |
ATP2B3 | 1 | Aug 20, 2019 |
AVEN | 1 | Aug 20, 2019 |
BLTP1 | 2 | Aug 20, 2019 |
CCN6 | 1 | Dec 18, 2017 |
CHRND | 1 | Aug 20, 2019 |
CHRNG | 1 | Aug 20, 2019 |
CNTNAP1 | 2 | Aug 20, 2019 |
DQX1 | 1 | Aug 20, 2019 |
DYNC1H1 | 2 | Aug 20, 2019 |
EARS2 | 2 | Aug 20, 2019 |
FBLN1 | 1 | Aug 20, 2019 |
GBE1 | 1 | Aug 20, 2019 |
GCN1 | 1 | Aug 20, 2019 |
GFRA4 | 1 | Aug 20, 2019 |
GLDN | 2 | Aug 20, 2019 |
IQSEC3 | 2 | Aug 20, 2019 |
IQSEC3-AS1 | 1 | Aug 20, 2019 |
LGI4 | 2 | Aug 20, 2019 |
LOC125177481 | 1 | Aug 20, 2019 |
LOC574538 | 1 | Aug 20, 2019 |
MAGI3 | 1 | Aug 20, 2019 |
MTMR2 | 4 | May 30, 2019 |
NAGA | 1 | Aug 20, 2019 |
NALCN | 3 | Aug 20, 2019 |
PIEZO2 | 3 | Aug 20, 2019 |
PRG4 | 1 | Aug 20, 2019 |
PRICKLE1 | 1 | Aug 20, 2019 |
RAPSN | 2 | Aug 20, 2019 |
ROR2 | 2 | Aug 20, 2019 |
RYR1 | 11 | Aug 20, 2019 |
RYR3 | 1 | Aug 20, 2019 |
SCN4A | 1 | Aug 20, 2019 |
SCN5A | 1 | Aug 20, 2019 |
SCN8A | 1 | Aug 20, 2019 |
SETBP1 | 1 | Aug 20, 2019 |
SLC6A5 | 2 | Apr 2, 2019 |
SPAG16 | 2 | Aug 20, 2019 |
TMPO | 1 | Aug 20, 2019 |
UNC45B | 1 | Apr 9, 2020 |
UNC50 | 1 | Aug 20, 2019 |
VPS13D | 2 | Aug 20, 2019 |
ZEB2 | 1 | Aug 20, 2019 |
ZNF875 | 1 | Aug 20, 2019 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Arthrogryposis multiplex congenita | 68 | Aug 20, 2019 |
Charcot-Marie-Tooth disease type 4B1 | 4 | May 30, 2019 |
Exaggerated startle response | 2 | Apr 2, 2019 |
Fetal akinesia deformation sequence 1 | 69 | Feb 25, 2020 |
Infantile-onset ascending hereditary spastic paralysis | 6 | Oct 30, 2019 |
Juvenile primary lateral sclerosis | 1 | Oct 30, 2019 |
Myopathy | 1 | Apr 9, 2020 |
Progressive pseudorheumatoid dysplasia | 1 | Dec 18, 2017 |