Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit (IRCCS Fondazione Stella Maris)
General information
Personnel
- Daniele Galatolo, Staff
Phone: 3339614208
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 244
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS2 | 2 | Jul 27, 2021 |
| ABCD1 | 2 | Mar 14, 2021 |
| AFG3L2 | 5 | Jul 27, 2021 |
| AHDC1 | 1 | Jul 27, 2021 |
| AMACR | 1 | Mar 14, 2021 |
| AMPD2 | 1 | Jul 27, 2021 |
| ANO10 | 3 | Jul 27, 2021 |
| APOB | 1 | Mar 14, 2021 |
| APTX | 2 | Jul 27, 2021 |
| ARSA | 1 | Jul 27, 2021 |
| ATM | 6 | Jul 27, 2021 |
| ATP13A2 | 1 | Jul 27, 2021 |
| ATP1A2 | 1 | Mar 14, 2021 |
| ATP2B3 | 1 | Jul 27, 2021 |
| ATP7B | 1 | Jul 27, 2021 |
| C11orf65 | 2 | Mar 14, 2021 |
| C19orf12 | 1 | Mar 14, 2021 |
| C1QTNF3-AMACR | 1 | Mar 14, 2021 |
| CACNA1A | 5 | Jul 27, 2021 |
| CACNA1G | 6 | Jul 27, 2021 |
| CACNB4 | 1 | Jul 27, 2021 |
| CCDC88C | 2 | Jul 27, 2021 |
| CEP290 | 3 | Jul 27, 2021 |
| CLCN2 | 1 | Jul 27, 2021 |
| CLN6 | 1 | Jul 27, 2021 |
| COQ4 | 6 | Mar 14, 2021 |
| COQ8A | 5 | Jul 27, 2021 |
| CYP7B1 | 1 | Mar 14, 2021 |
| DAB1 | 1 | Jul 27, 2021 |
| DARS2 | 2 | Jul 27, 2021 |
| DNMT1 | 3 | Jul 27, 2021 |
| ELOVL4 | 1 | Jul 27, 2021 |
| ERCC4 | 2 | Mar 14, 2021 |
| EXOSC3 | 1 | Mar 14, 2021 |
| EXOSC8 | 1 | Jul 27, 2021 |
| FA2H | 1 | Jul 27, 2021 |
| FAT2 | 1 | Jul 27, 2021 |
| GALC | 2 | Jul 27, 2021 |
| GJC2 | 3 | Jul 27, 2021 |
| GLB1 | 1 | Mar 14, 2021 |
| HARS1 | 9 | Mar 14, 2021 |
| HPDL | 3 | Jul 19, 2022 |
| HSD17B4 | 2 | Jul 27, 2021 |
| INCA1 | 1 | Mar 14, 2021 |
| ITPR1 | 5 | Jul 27, 2021 |
| JMJD8 | 8 | Jul 27, 2021 |
| KCNA2 | 2 | Mar 14, 2021 |
| KCNC3 | 1 | Mar 14, 2021 |
| KCND3 | 3 | Jul 27, 2021 |
| KIF1A | 3 | Jul 27, 2021 |
| KIF1C | 1 | Mar 14, 2021 |
| LAMA1 | 2 | Mar 14, 2021 |
| LOC126806590 | 1 | Mar 14, 2021 |
| LOC126862472 | 1 | Mar 14, 2021 |
| LOC126862853 | 1 | Jul 27, 2021 |
| LOC130059818 | 1 | Mar 14, 2021 |
| LYST | 3 | Jul 27, 2021 |
| MFN2 | 1 | Jul 27, 2021 |
| MKS1 | 1 | Jul 27, 2021 |
| MMACHC | 2 | Jul 27, 2021 |
| MME | 1 | Mar 14, 2021 |
| MTPAP | 1 | Jul 27, 2021 |
| NAGLU | 1 | Mar 14, 2021 |
| OPA1 | 2 | Mar 14, 2021 |
| PEX10 | 1 | Mar 14, 2021 |
| PIK3R5 | 1 | Mar 14, 2021 |
| PLA2G6 | 3 | Jul 27, 2021 |
| PMM2 | 2 | Mar 14, 2021 |
| PNPLA6 | 12 | Jul 27, 2021 |
| POLG | 3 | Mar 14, 2021 |
| POLGARF | 3 | Mar 14, 2021 |
| POLR1C | 2 | Jul 27, 2021 |
| POLR3A | 3 | Jul 27, 2021 |
| PPT1 | 1 | Jul 27, 2021 |
| PRKCG | 9 | Jul 27, 2021 |
| PRNP | 1 | Mar 14, 2021 |
| PSEN1 | 1 | Mar 14, 2021 |
| PUM1 | 1 | Jul 27, 2021 |
| RARS2 | 2 | Jul 27, 2021 |
| RNF170 | 1 | Jul 27, 2021 |
| RNF216 | 2 | Jul 27, 2021 |
| SACS | 5 | Jul 27, 2021 |
| SCN2A | 1 | Jul 27, 2021 |
| SCN8A | 1 | Mar 14, 2021 |
| SEPSECS | 1 | Mar 14, 2021 |
| SETX | 6 | Jul 27, 2021 |
| SLC1A3 | 1 | Jul 27, 2021 |
| SLC25A46 | 1 | Jul 27, 2021 |
| SLC2A1 | 2 | Mar 14, 2021 |
| SPAST | 1 | Mar 14, 2021 |
| SPG11 | 1 | Mar 14, 2021 |
| SPG7 | 8 | Jul 27, 2021 |
| SPTAN1 | 1 | Mar 14, 2021 |
| SPTBN2 | 4 | Jul 27, 2021 |
| STUB1 | 12 | Jul 27, 2021 |
| STXBP1 | 3 | Jul 27, 2021 |
| SYNE1 | 10 | Jul 27, 2021 |
| SYNE2 | 2 | Jul 27, 2021 |
| TMEM240 | 4 | Jul 27, 2021 |
| TMEM67 | 1 | Jul 27, 2021 |
| TPP1 | 1 | Jul 27, 2021 |
| TRPC3 | 1 | Mar 14, 2021 |
| TTBK2 | 2 | Jul 27, 2021 |
| TTPA | 1 | Mar 14, 2021 |
| TUBB3 | 1 | Jul 27, 2021 |
| WFS1 | 7 | Jul 27, 2021 |