Neurometabolic Diseases Laboratory (Bellvitge Biomedical Research Institute (IDIBELL))
General information
Personnel
- Aurora Pujol, Principal Investigator
Phone: +34 93 2607137
Email: apujol@idibell.cat - Agatha Schlüter, Variant scientist/curator
Phone: +34 93 2607137
Email: aschluter@idibell.cat
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 106
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACER3 | 1 | Apr 28, 2023 |
| AFG3L2 | 1 | Apr 28, 2023 |
| ALS2 | 1 | Apr 28, 2023 |
| AMPD2 | 1 | Apr 28, 2023 |
| AP4B1 | 2 | Apr 28, 2023 |
| AP4B1-AS1 | 1 | Apr 28, 2023 |
| ATL1 | 3 | Apr 28, 2023 |
| BCKDK | 1 | Apr 28, 2023 |
| BSCL2 | 1 | Apr 28, 2023 |
| CACNA1A | 2 | Apr 28, 2023 |
| CAPN1 | 1 | Apr 28, 2023 |
| CAPN10 | 1 | Apr 28, 2023 |
| CC2D2A | 2 | Apr 28, 2023 |
| COL6A3 | 1 | Apr 28, 2023 |
| CTNNB1 | 1 | Apr 28, 2023 |
| CYP2U1 | 1 | Apr 28, 2023 |
| DDHD2 | 1 | Apr 28, 2023 |
| DLG4 | 1 | Apr 28, 2023 |
| DSTYK | 1 | Apr 28, 2023 |
| ERBB4 | 1 | Apr 28, 2023 |
| FA2H | 1 | Apr 28, 2023 |
| FARS2 | 2 | Apr 28, 2023 |
| GFAP | 1 | Apr 28, 2023 |
| HNRNPUL2-BSCL2 | 1 | Apr 28, 2023 |
| IFIH1 | 2 | Apr 28, 2023 |
| IQSEC2 | 1 | Apr 28, 2023 |
| IRF2BPL | 1 | Apr 28, 2023 |
| KCNA1 | 1 | Apr 28, 2023 |
| KIDINS220 | 1 | Apr 28, 2023 |
| KIF1A | 3 | Apr 28, 2023 |
| KIF5A | 1 | Apr 28, 2023 |
| KMT2B | 1 | Apr 28, 2023 |
| L2HGDH | 1 | Apr 28, 2023 |
| LAMA1 | 2 | Apr 28, 2023 |
| LOC112543434 | 1 | Apr 28, 2023 |
| LOC126860971 | 1 | Apr 28, 2023 |
| LOC129992330 | 1 | Apr 28, 2023 |
| LONP1 | 2 | Apr 28, 2023 |
| MMUT | 1 | Apr 28, 2023 |
| MORC2 | 1 | Apr 28, 2023 |
| NDUFS6 | 1 | Apr 28, 2023 |
| PAX6 | 1 | Apr 28, 2023 |
| PCYT2 | 1 | Apr 28, 2023 |
| PDK3 | 1 | Apr 28, 2023 |
| PI4KA | 4 | Apr 28, 2023 |
| PMM2 | 2 | Apr 28, 2023 |
| PNKP | 2 | Apr 28, 2023 |
| PNPLA6 | 2 | Apr 28, 2023 |
| POLG | 2 | Apr 28, 2023 |
| POLGARF | 2 | Apr 28, 2023 |
| POLR1C | 1 | Apr 28, 2023 |
| POLR3A | 7 | Apr 28, 2023 |
| POLR3B | 1 | Apr 28, 2023 |
| REEP1 | 2 | Apr 28, 2023 |
| RINT1 | 3 | Apr 28, 2023 |
| RNASEH2B | 1 | Apr 28, 2023 |
| SARS1 | 1 | Apr 28, 2023 |
| SEPSECS | 1 | Apr 28, 2023 |
| SHMT2 | 1 | Apr 28, 2023 |
| SLC25A46 | 1 | Apr 28, 2023 |
| SLC35B2 | 1 | Apr 28, 2023 |
| SPAST | 4 | Apr 28, 2023 |
| SPG11 | 8 | Apr 28, 2023 |
| SPG7 | 5 | Apr 28, 2023 |
| SPTAN1 | 1 | Apr 28, 2023 |
| SPTBN2 | 1 | Apr 28, 2023 |
| SVBP | 1 | Apr 28, 2023 |
| TAF1 | 1 | Apr 28, 2023 |
| TMEM240 | 1 | Apr 28, 2023 |
| TRMT5 | 2 | Apr 28, 2023 |
| UBAP1 | 1 | Apr 28, 2023 |