Medical Cytogenetics and Molecular Genetics Laboratory (IRCCS Istituto Auxologico Italiano), CYTOMOL-IAI
General information
Personnel
- Ilaria Bestetti, Principal Investigator
Phone: +3902619113026
Email: i.bestetti@auxologico.it - Milena Crippa, Principal Investigator
Phone: +3902619113026
Email: m.crippa@auxologico.it
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 197
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABHD2 | 1 | Jul 20, 2018 |
| ACKR3 | 1 | Jun 11, 2020 |
| ADAMTS1 | 1 | Jun 11, 2020 |
| ADAMTS5 | 1 | Jun 11, 2020 |
| ADAMTS6 | 1 | Jun 11, 2020 |
| ADARB2 | 1 | Jul 20, 2018 |
| AFF2 | 1 | Jun 11, 2020 |
| AFP | 1 | Jun 11, 2020 |
| AHCTF1 | 1 | Jul 20, 2018 |
| AMELX | 1 | Jul 20, 2018 |
| AMFR | 1 | Jul 20, 2018 |
| ANKRD11 | 25 | Feb 15, 2022 |
| AOPEP | 1 | Jun 11, 2020 |
| APC | 1 | Jul 20, 2018 |
| ARHGAP6 | 1 | Jul 20, 2018 |
| ARRDC1 | 1 | Mar 27, 2019 |
| ARSA | 1 | Jul 20, 2018 |
| ASMTL | 1 | Jul 20, 2018 |
| ATG2A | 1 | Jun 11, 2020 |
| ATG7 | 1 | Jun 11, 2020 |
| ATG9B | 1 | Jun 11, 2020 |
| ATP10B | 1 | Jul 20, 2018 |
| BCAP29 | 1 | Jul 20, 2018 |
| BMAL1 | 1 | Jun 11, 2020 |
| BMP15 | 1 | Jul 20, 2018 |
| BMP4 | 1 | Jul 20, 2018 |
| BMP6 | 1 | Jun 11, 2020 |
| BNC1 | 1 | Jun 11, 2020 |
| BRD3 | 1 | Jun 11, 2020 |
| BRDT | 1 | Jun 11, 2020 |
| BRWD1 | 1 | Jun 11, 2020 |
| CACNA1B | 1 | Mar 27, 2019 |
| CAPZA1 | 1 | Jul 20, 2018 |
| CCDC148 | 1 | Jul 20, 2018 |
| CCSER1 | 1 | Jul 20, 2018 |
| CD1E | 1 | Jul 20, 2018 |
| CDK13 | 1 | Jul 20, 2018 |
| CHEK2 | 1 | Jun 11, 2020 |
| CNTLN | 2 | Jul 20, 2018 |
| CPEB1 | 1 | Jul 20, 2018 |
| CYP17A1 | 1 | Jun 11, 2020 |
| CYP19A1 | 1 | Jun 11, 2020 |
| CYP2E1 | 5 | Jul 20, 2018 |
| DDX1 | 1 | Jul 20, 2018 |
| DENND6A | 1 | Jul 20, 2018 |
| DIAPH2 | 1 | Jul 20, 2018 |
| DLC1 | 1 | Jul 20, 2018 |
| DMRT3 | 1 | Jun 11, 2020 |
| DPPA2 | 1 | Jun 11, 2020 |
| DUSP19 | 1 | Jul 20, 2018 |
| DUSP22 | 8 | Jul 20, 2018 |
| EHMT1 | 1 | Mar 27, 2019 |
| ERI1 | 1 | Jul 20, 2018 |
| FAM120B | 1 | Jul 20, 2018 |
| FANCA | 1 | Jun 11, 2020 |
| FANCC | 1 | Jun 11, 2020 |
| FHIT | 1 | Jul 20, 2018 |
| FYN | 1 | Jun 11, 2020 |
| FZD6 | 1 | Jul 20, 2018 |
| GABRB2 | 1 | Jul 20, 2018 |
| GADL1 | 1 | Jul 20, 2018 |
| GALT | 1 | Jun 11, 2020 |
| GLI1 | 1 | Jun 11, 2020 |
| GPBP1L1 | 1 | Jul 20, 2018 |
| GPR37L1 | 1 | Jul 20, 2018 |
| GXYLT1 | 1 | Jul 20, 2018 |
| IGF2R | 1 | Jun 11, 2020 |
| IL1RAPL2 | 1 | Mar 27, 2019 |
| INSL6 | 1 | Jun 11, 2020 |
| IPP | 1 | Jul 20, 2018 |
| JAK2 | 1 | Jun 11, 2020 |
| KDR | 1 | Jun 11, 2020 |
| KHDRBS1 | 1 | Jun 11, 2020 |
| LARS2 | 1 | Jun 11, 2020 |
| LEPR | 1 | Jun 11, 2020 |
| LINC01470 | 1 | Jul 20, 2018 |
| LINC02331 | 1 | Jul 20, 2018 |
| LINC02897 | 1 | Jul 20, 2018 |
| LINC03077 | 1 | Jul 20, 2018 |
| LRIG2 | 1 | Jul 20, 2018 |
| LRRC41 | 2 | Jun 11, 2020 |
| MAST2 | 1 | Jul 20, 2018 |
| MECOM | 1 | Jun 11, 2020 |
| MGLL | 1 | Jul 20, 2018 |
| MIR4500HG | 1 | Jul 20, 2018 |
| MIR4713HG | 1 | Jun 11, 2020 |
| MLH3 | 1 | Jun 11, 2020 |
| MOV10 | 2 | Jun 11, 2020 |
| MSL3 | 1 | Jul 20, 2018 |
| MYC | 1 | Jun 11, 2020 |
| MYCN | 1 | Jul 20, 2018 |
| MYCNOS | 1 | Jul 20, 2018 |
| NAIP | 5 | Jul 20, 2018 |
| NBAS | 1 | Jul 20, 2018 |
| NCAM2 | 1 | Jul 20, 2018 |
| NCKAP5 | 1 | Jul 20, 2018 |
| NKX2-6 | 1 | Jul 20, 2018 |
| NKX3-1 | 1 | Jul 20, 2018 |
| NOBOX | 1 | Jun 11, 2020 |
| NOS3 | 2 | Jun 11, 2020 |
| NOTCH2 | 1 | Jun 11, 2020 |
| NR5A2 | 1 | Jun 11, 2020 |
| NTRK1 | 1 | Jun 11, 2020 |
| NUP35 | 1 | Jul 20, 2018 |
| OR51B5 | 1 | Jul 20, 2018 |
| OR51I1 | 1 | Jul 20, 2018 |
| OR51I2 | 1 | Jul 20, 2018 |
| P2RY8 | 1 | Jul 20, 2018 |
| PARD3 | 1 | Jun 11, 2020 |
| PCSK5 | 1 | Jul 20, 2018 |
| PIRC66 | 1 | Jun 11, 2020 |
| PMM2 | 1 | Jun 11, 2020 |
| PNPLA4 | 1 | Jul 20, 2018 |
| POLG | 1 | Jun 11, 2020 |
| POLGARF | 1 | Jun 11, 2020 |
| POR | 1 | Jun 11, 2020 |
| PPM1J | 1 | Jul 20, 2018 |
| PRIM1 | 1 | Jun 11, 2020 |
| PRKAA1 | 1 | Jul 20, 2018 |
| PRLR | 1 | Jun 11, 2020 |
| PSMB1 | 1 | Jul 20, 2018 |
| PTCHD1 | 1 | Jul 20, 2018 |
| PUDP | 1 | Jul 20, 2018 |
| RAD51C | 1 | Jun 11, 2020 |
| RAD54L | 3 | Jun 11, 2020 |
| RAI1 | 2 | Nov 11, 2021 |
| REC8 | 1 | Jun 11, 2020 |
| RHCE | 1 | Mar 27, 2019 |
| RHD | 1 | Mar 27, 2019 |
| RHOC | 1 | Jul 20, 2018 |
| RICTOR | 1 | Jun 11, 2020 |
| RREB1 | 1 | Jul 20, 2018 |
| RSRP1 | 1 | Mar 27, 2019 |
| RYR3 | 4 | Jun 11, 2020 |
| SETD5 | 2 | Mar 3, 2020 |
| SH2B1 | 1 | Jun 11, 2020 |
| SHANK3 | 1 | Jul 20, 2018 |
| SIRT6 | 1 | Jun 11, 2020 |
| SLC16A1 | 1 | Jul 20, 2018 |
| SLC5A5 | 1 | Jul 20, 2018 |
| SLMAP | 1 | Jul 20, 2018 |
| SMYD3 | 1 | Jul 20, 2018 |
| STAG3 | 1 | Jun 11, 2020 |
| STS | 1 | Jul 20, 2018 |
| SYCE1 | 5 | Jul 20, 2018 |
| SYF2 | 1 | Mar 27, 2019 |
| TAFA3 | 1 | Jul 20, 2018 |
| TBP | 1 | Jul 20, 2018 |
| THBS1 | 1 | Jun 11, 2020 |
| TMEM50A | 1 | Mar 27, 2019 |
| TMEM69 | 1 | Jul 20, 2018 |
| TP63 | 2 | Jul 20, 2018 |
| TSHZ2 | 1 | Jul 20, 2018 |
| VCX | 1 | Jul 20, 2018 |
| VLDLR | 1 | Jul 20, 2018 |
| WDR37 | 1 | Jul 20, 2018 |
| WHAMM | 1 | Jun 11, 2020 |
| WT1 | 1 | Jun 11, 2020 |
| XPNPEP2 | 1 | Jun 11, 2020 |
| XPO1 | 1 | Jul 20, 2018 |
| YAF2 | 1 | Jul 20, 2018 |
| ZNF124 | 1 | Jul 20, 2018 |
| ZNF217 | 1 | Jul 20, 2018 |
| ZNF462 | 1 | Jun 11, 2020 |
| ZNF669 | 1 | Jul 20, 2018 |
| ZNF670 | 1 | Jul 20, 2018 |
| ZNF675 | 1 | Jul 20, 2018 |
| ZNF681 | 1 | Jul 20, 2018 |
| ZNF695 | 1 | Jul 20, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 1q24q25 microdeletion syndrome | 1 | Dec 17, 2018 |
| 3p- syndrome | 1 | Mar 3, 2020 |
| 9q34 microduplication syndrome | 3 | Mar 27, 2019 |
| Chromosome 13q14 deletion syndrome | 1 | Jun 1, 2018 |
| Chromosome 17p13.3 duplication syndrome | 1 | Dec 17, 2018 |
| Chromosome 22q11.2 deletion syndrome, distal | 1 | Dec 17, 2018 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2 | Mar 3, 2020 |
| KBG syndrome | 29 | Feb 15, 2022 |
| Mulibrey nanism syndrome | 1 | Dec 17, 2018 |
| Premature ovarian failure | 64 | Jun 11, 2020 |
| Primary amenorrhea | 88 | Jul 20, 2018 |
| Silver Russell Syndrome-related disorder | 3 | Dec 17, 2018 |
| Smith-Magenis syndrome | 2 | Nov 11, 2021 |