Cavalleri Lab (Royal College of Surgeons in Ireland), CAV-LAB
General information
Cavalleri Lab, CAV-LAB
Royal College of Surgeons in Ireland
Dublin
Dublin
Ireland
http://pi.rcsi.ie/pi/gcavalleri/pi.asp
Organization ID: 506791
Royal College of Surgeons in Ireland
Dublin
Dublin
Ireland
http://pi.rcsi.ie/pi/gcavalleri/pi.asp
Organization ID: 506791
Personnel
- Katherine Benson, Informatics staff
Phone: +35314022461
Email: katherinebenson@rcsi.ie - Susan Byrne, Informatics staff
Phone: 014774003
Email: suabyrne@rcsi.ie - Robert Carton, Informatics staff
Phone: +35314022102
Email: robertcarton@rcsi.ie - Gianpiero Cavalleri, Principal Investigator
Phone: +35314022146
Email: gcavalleri@rcsi.ie - Hugh Kearney, Informatics staff
Phone: +353860669287
Email: hughkearney@yahoo.com - Mark McCormack, Informatics staff
Phone: +35314022146
Email: markmccormack@rcsi.ie
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 204
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTN4 | 1 | May 28, 2020 |
| ALDH5A1 | 2 | Dec 11, 2019 |
| ALG13 | 1 | Dec 11, 2019 |
| ANKRD11 | 1 | Dec 11, 2019 |
| ANLN | 1 | May 28, 2020 |
| APOA1 | 2 | May 28, 2020 |
| APOA1-AS | 1 | May 28, 2020 |
| ARHGDIA | 1 | May 28, 2020 |
| ATIC | 1 | May 28, 2020 |
| ATP2A1 | 1 | Dec 11, 2019 |
| AXDND1 | 1 | May 28, 2020 |
| CACNA1A | 1 | Dec 11, 2019 |
| CEP55 | 1 | Nov 14, 2018 |
| CFH | 2 | Jun 1, 2020 |
| CFHR1 | 3 | May 28, 2020 |
| CFHR5 | 2 | May 28, 2020 |
| CFI | 1 | May 28, 2020 |
| CHD2 | 3 | Dec 11, 2019 |
| COL4A1 | 1 | May 28, 2020 |
| COL4A3 | 3 | May 28, 2020 |
| COL4A4 | 5 | Aug 24, 2020 |
| DCX | 1 | Dec 11, 2019 |
| DNM1L | 1 | Nov 14, 2018 |
| DSTYK | 1 | May 28, 2020 |
| DYNC1H1 | 1 | Dec 16, 2019 |
| EHHADH | 2 | May 28, 2020 |
| ETFB | 1 | May 28, 2020 |
| FGFR3 | 1 | Dec 11, 2019 |
| FN1 | 6 | May 28, 2020 |
| FREM1 | 1 | May 28, 2020 |
| GABRA1 | 1 | Dec 11, 2019 |
| GANAB | 1 | May 28, 2020 |
| GRIN2A | 1 | Dec 11, 2019 |
| INF2 | 1 | May 28, 2020 |
| KCNH2 | 1 | Dec 11, 2019 |
| KCNQ1 | 1 | Dec 11, 2019 |
| KPTN | 1 | Dec 11, 2019 |
| LOC102724058 | 2 | Dec 11, 2019 |
| LOC107303340 | 1 | Dec 11, 2019 |
| LOC107982234 | 1 | May 28, 2020 |
| LOC126806496 | 1 | May 28, 2020 |
| LOC126806498 | 1 | May 28, 2020 |
| LOC126859690 | 1 | Mar 6, 2020 |
| LOC129992813 | 2 | Mar 6, 2020 |
| LRP2 | 2 | Dec 11, 2019 |
| MBD5 | 1 | Dec 11, 2019 |
| MFF-DT | 3 | May 28, 2020 |
| MIR6511B1 | 2 | Mar 6, 2020 |
| MYH11 | 1 | Dec 11, 2019 |
| NDE1 | 1 | Dec 11, 2019 |
| NEDD4L | 1 | Dec 11, 2019 |
| NHERF1 | 1 | May 28, 2020 |
| NONO | 1 | Dec 11, 2019 |
| NPHS2 | 2 | May 28, 2020 |
| OPHN1 | 1 | Dec 11, 2019 |
| OPLAH | 1 | Nov 20, 2018 |
| OSBPL7 | 1 | Nov 14, 2018 |
| PAFAH1B1 | 1 | Dec 11, 2019 |
| PKD1 | 100 | Dec 14, 2020 |
| PKD1-AS1 | 13 | Mar 6, 2020 |
| PKD2 | 15 | Mar 6, 2020 |
| PKHD1 | 3 | Aug 24, 2020 |
| PPP3CA | 1 | Dec 11, 2019 |
| PTEN | 1 | Dec 11, 2019 |
| PURA | 1 | Dec 11, 2019 |
| RORA | 1 | Dec 11, 2019 |
| SCN1A | 3 | Dec 11, 2019 |
| SMC1A | 1 | Dec 11, 2019 |
| SOX17 | 1 | May 28, 2020 |
| STXBP1 | 2 | Dec 11, 2019 |
| SYNGAP1 | 1 | Dec 11, 2019 |
| SYNGAP1-AS1 | 1 | Dec 11, 2019 |
| TBX18 | 1 | May 28, 2020 |
| TSC1 | 1 | Dec 11, 2019 |
| TSC2 | 1 | Mar 6, 2020 |
| TTC21B | 1 | May 28, 2020 |
| TUFM | 1 | Dec 11, 2019 |
| UMOD | 1 | May 28, 2020 |
| VHL | 1 | Dec 11, 2019 |
| WT1 | 1 | May 28, 2020 |
| YARS2 | 1 | Nov 14, 2018 |
| ZNF423 | 1 | May 28, 2020 |