Genetics Laboratory, UDIAT-Centre Diagnòstic (Hospital Universitari Parc Tauli), LdG
General information
Personnel
- Anna Ruiz, Staff
Phone: 0034 936933200
Email: aruizn@tauli.cat - Nino Spataro, Staff
Phone: 0034 936933200
Email: spatariello@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 155
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTB | 1 | May 6, 2021 |
| ADNP | 2 | May 6, 2021 |
| AGO1 | 1 | May 6, 2021 |
| AHDC1 | 2 | May 6, 2021 |
| ANKRD11 | 3 | May 6, 2021 |
| ARID1B | 4 | May 6, 2021 |
| ASCC1 | 1 | May 6, 2021 |
| ATXN7L3-AS1 | 1 | May 6, 2021 |
| AUTS2 | 2 | May 6, 2021 |
| BMP4 | 1 | May 6, 2021 |
| BRF1 | 2 | May 6, 2021 |
| BRPF1 | 1 | May 6, 2021 |
| CACNA1D | 1 | May 6, 2021 |
| CAPN3 | 2 | May 6, 2021 |
| CDC42 | 1 | May 6, 2021 |
| CFAP410 | 1 | May 6, 2021 |
| CHRM1 | 1 | May 6, 2021 |
| CLCN4 | 1 | May 6, 2021 |
| CLTC | 1 | May 6, 2021 |
| CNNM2 | 1 | May 6, 2021 |
| CNOT1 | 1 | May 6, 2021 |
| CNTNAP2 | 1 | May 6, 2021 |
| COL9A1 | 1 | May 6, 2021 |
| CREBBP | 2 | May 6, 2021 |
| CRYGS | 1 | May 6, 2021 |
| CSNK2A1 | 1 | May 6, 2021 |
| CTNNB1 | 1 | May 6, 2021 |
| DDX3X | 1 | May 6, 2021 |
| DEAF1 | 1 | May 6, 2021 |
| DLG3 | 1 | May 6, 2021 |
| DLL1 | 1 | May 6, 2021 |
| DNMT3A | 2 | May 6, 2021 |
| DONSON | 2 | May 6, 2021 |
| DSCAM | 1 | May 6, 2021 |
| DYRK1A | 1 | May 6, 2021 |
| EBF3 | 1 | May 6, 2021 |
| EIF2B5 | 2 | May 6, 2021 |
| ERF | 2 | May 6, 2021 |
| FBXO11 | 2 | May 6, 2021 |
| FBXO28 | 1 | May 6, 2021 |
| FLNA | 1 | May 6, 2021 |
| FLNB | 1 | May 6, 2021 |
| FMR1 | 1 | May 6, 2021 |
| FOXP1 | 1 | May 6, 2021 |
| FOXP2 | 1 | May 6, 2021 |
| GABRB3 | 1 | May 6, 2021 |
| GHR | 2 | May 6, 2021 |
| GRIN2A | 1 | May 6, 2021 |
| GRIN2B | 2 | May 6, 2021 |
| H4C5 | 1 | May 6, 2021 |
| HID1 | 2 | May 6, 2021 |
| IL1RAPL1 | 1 | May 6, 2021 |
| IQSEC2 | 3 | May 6, 2021 |
| KAT6A | 1 | May 6, 2021 |
| KCNH1 | 1 | May 6, 2021 |
| KCNQ2 | 1 | May 6, 2021 |
| KMT2A | 3 | May 6, 2021 |
| KMT5B | 2 | May 6, 2021 |
| LHX4 | 1 | May 6, 2021 |
| MEA1 | 1 | May 6, 2021 |
| MECP2 | 2 | May 6, 2021 |
| MED12 | 1 | May 6, 2021 |
| MED13L | 1 | May 6, 2021 |
| NAA15 | 2 | May 6, 2021 |
| NCAM1 | 1 | May 6, 2021 |
| NFIX | 1 | May 6, 2021 |
| NONO | 1 | May 6, 2021 |
| NR2F1 | 1 | May 6, 2021 |
| PACS2 | 1 | May 6, 2021 |
| PBX1 | 1 | May 6, 2021 |
| PER3 | 1 | May 6, 2021 |
| PHIP | 1 | May 6, 2021 |
| PIK3CA | 1 | May 6, 2021 |
| PKD1 | 1 | May 6, 2021 |
| POGZ | 3 | May 6, 2021 |
| PPP2R1A | 2 | May 6, 2021 |
| PPP2R5C | 1 | May 6, 2021 |
| PPP2R5D | 1 | May 6, 2021 |
| PQBP1 | 2 | May 6, 2021 |
| PTEN | 1 | May 6, 2021 |
| PURA | 1 | May 6, 2021 |
| PUS7 | 1 | May 6, 2021 |
| RAC1 | 1 | May 6, 2021 |
| RAC3 | 1 | May 6, 2021 |
| RAD21 | 1 | May 6, 2021 |
| RLIM | 1 | May 6, 2021 |
| RORA | 1 | May 6, 2021 |
| RORA-AS1 | 1 | May 6, 2021 |
| RPS6KA3 | 1 | May 6, 2021 |
| SCN2A | 2 | May 6, 2021 |
| SCN8A | 1 | May 6, 2021 |
| SETD5 | 1 | May 6, 2021 |
| SGCB | 1 | May 6, 2021 |
| SHANK3 | 1 | May 6, 2021 |
| SIN3A | 2 | May 6, 2021 |
| SMC3 | 1 | May 6, 2021 |
| SNX27 | 2 | May 6, 2021 |
| SON | 1 | May 6, 2021 |
| SOX5 | 1 | May 6, 2021 |
| SPTAN1 | 2 | May 6, 2021 |
| SRCAP | 1 | May 6, 2021 |
| STAG1 | 1 | May 6, 2021 |
| STXBP1 | 1 | May 6, 2021 |
| SZT2 | 1 | May 6, 2021 |
| SZT2-AS1 | 1 | May 6, 2021 |
| TAF1 | 1 | May 6, 2021 |
| TBL1XR1 | 1 | May 6, 2021 |
| TCF20 | 1 | May 6, 2021 |
| TLK2 | 2 | May 6, 2021 |
| TMX2 | 2 | May 6, 2021 |
| TMX2-CTNND1 | 2 | May 6, 2021 |
| TPM3 | 1 | May 6, 2021 |
| TRAF7 | 1 | May 6, 2021 |
| TRIP12 | 2 | May 6, 2021 |
| TUBB2A | 1 | May 6, 2021 |
| UBTF | 1 | May 6, 2021 |
| USP9X | 3 | May 6, 2021 |
| WAC | 2 | May 6, 2021 |
| WDR26 | 1 | May 6, 2021 |
| WDR45 | 1 | May 6, 2021 |
| ZEB2 | 1 | May 6, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| See cases | 155 | May 6, 2021 |