MAGI'S LAB - Medical Genetics Laboratory (MAGI GROUP), MAGI
General information
MAGI'S LAB - Medical Genetics Laboratory, MAGI
MAGI GROUP
Via delle Maioliche 57/D
Rovereto
Italy - 38068
http://www.magi-group.eu/
Organization ID: 506319
MAGI GROUP
Via delle Maioliche 57/D
Rovereto
Italy - 38068
http://www.magi-group.eu/
Organization ID: 506319
Personnel
- Gabriele Bonetti, Staff
Phone: 0039 036562061
Email: gabriele.bonetti@assomagi.org - Paolo Maltese, Staff
Phone: 0039 0464-420795
Email: paolo.maltese@assomagi.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 32
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALMS1 | 3 | Aug 5, 2020 |
| BBS1 | 3 | Dec 10, 2018 |
| BBS10 | 4 | Dec 10, 2018 |
| BBS2 | 2 | Dec 10, 2018 |
| BBS7 | 1 | Dec 10, 2018 |
| BEST1 | 6 | Aug 7, 2018 |
| CELSR1 | 5 | Dec 14, 2018 |
| LOC126863169 | 1 | Dec 14, 2018 |
| MKKS | 1 | Dec 10, 2018 |
| NMNAT1 | 1 | Mar 26, 2025 |
| RP2 | 1 | Feb 13, 2025 |
| SAG | 1 | Aug 6, 2018 |
| TTC8 | 1 | Dec 10, 2018 |
| TWIST1 | 1 | Sep 11, 2017 |
| UBQLN2 | 1 | Apr 14, 2020 |
| USH2A | 1 | Feb 14, 2025 |
| ZDHHC24 | 2 | Dec 10, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alstrom syndrome | 3 | Aug 5, 2020 |
| Amyotrophic lateral sclerosis type 15 | 1 | Apr 14, 2020 |
| Bardet-Biedl syndrome | 12 | Dec 10, 2018 |
| Leber congenital amaurosis 9 | 1 | Mar 26, 2025 |
| Lymphatic malformation | 5 | Dec 14, 2018 |
| Oguchi disease | 1 | Aug 6, 2018 |
| Retinitis pigmentosa 2 | 1 | Feb 13, 2025 |
| Saethre-Chotzen syndrome | 1 | Sep 11, 2017 |
| Usher syndrome type 2A | 1 | Feb 14, 2025 |
| Vitelliform macular dystrophy 2 | 6 | Aug 7, 2018 |