UM ALS/MND Lab (University of Malta), ALSMNDLAB
General information
UM ALS/MND Lab, ALSMNDLAB
University of Malta
Msida
Malta - MSD2080
https://alsmndlab.weebly.com
Organization ID: 507671
University of Malta
Msida
Malta - MSD2080
https://alsmndlab.weebly.com
Organization ID: 507671
Personnel
- Ruben Cauchi, Principal Investigator
Phone: +356 23402145
Email: rubenjpcauchi@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 49
Gene
Gene | Submissions | Last Updated |
---|---|---|
ALS2 | 4 | Aug 5, 2022 |
ATXN2 | 2 | Sep 9, 2020 |
CAPN14 | 1 | Sep 9, 2020 |
CFAP410 | 1 | Sep 9, 2020 |
DAO | 1 | Aug 17, 2020 |
DCTN1 | 3 | Sep 9, 2020 |
DDX20 | 1 | Sep 9, 2020 |
DNAJC7 | 1 | Sep 9, 2020 |
ERBB4 | 3 | Sep 9, 2020 |
EWSR1 | 2 | Sep 9, 2020 |
GLE1 | 1 | Sep 9, 2020 |
KANK1 | 1 | Aug 5, 2022 |
KIF5A | 2 | Sep 9, 2020 |
LOC101929270 | 1 | Sep 9, 2020 |
LOC130008791 | 1 | Aug 13, 2020 |
LOC130056709 | 1 | Aug 14, 2020 |
MOBP | 1 | Sep 9, 2020 |
NEFH | 2 | Aug 5, 2022 |
NEK1 | 1 | Sep 9, 2020 |
NIPA1 | 1 | Aug 14, 2020 |
SARM1 | 1 | Sep 9, 2020 |
SCFD1 | 2 | Sep 9, 2020 |
SETX | 5 | Aug 5, 2022 |
SPG11 | 9 | Aug 5, 2022 |
SQSTM1 | 1 | Aug 5, 2022 |
SS18L1 | 1 | Sep 9, 2020 |
TNIP1 | 1 | Sep 9, 2020 |
UNC13A | 1 | Sep 9, 2020 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Amyotrophic lateral sclerosis | 49 | Aug 5, 2022 |