Shenzhen Institute of Pediatrics (Shenzhen Children’s Hospital)
General information
Personnel
- Peng Wen
Phone: +86-15986662737
Email: [email protected] - pengqiang wen, Contact
Phone: +86-18938691580
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 91
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAAS | 1 | Apr 26, 2017 |
| ABCD1 | 1 | Dec 19, 2017 |
| ACAN | 1 | Oct 19, 2017 |
| ACAT1 | 1 | Jul 18, 2016 |
| ADAMTS10 | 1 | Nov 22, 2016 |
| ANOS1 | 4 | Apr 27, 2017 |
| AR | 1 | Nov 8, 2016 |
| BBS7 | 1 | Dec 27, 2016 |
| BBS9 | 1 | Sep 13, 2016 |
| CASK | 1 | Aug 21, 2017 |
| CBX2 | 1 | Jan 3, 2017 |
| CHD7 | 2 | Jul 4, 2017 |
| COL18A1 | 2 | Mar 21, 2017 |
| COL1A1 | 1 | Dec 25, 2017 |
| COL1A2 | 1 | Jul 26, 2018 |
| COMP | 2 | Sep 25, 2017 |
| CPLANE1 | 1 | Jan 3, 2017 |
| CREBBP | 1 | Nov 12, 2016 |
| CYP11A1 | 2 | Mar 30, 2017 |
| CYP21A2 | 2 | Jan 27, 2017 |
| CYP27B1 | 1 | Oct 24, 2016 |
| DHH | 1 | Sep 13, 2016 |
| DMRT1 | 1 | Feb 28, 2017 |
| FGFR1 | 1 | Dec 25, 2017 |
| FOXP3 | 1 | Nov 8, 2016 |
| GCDH | 1 | Jun 7, 2016 |
| GCK | 1 | Jun 7, 2016 |
| GLI2 | 1 | Oct 18, 2017 |
| HLCS | 1 | Jun 18, 2017 |
| HSD17B10 | 1 | Aug 9, 2016 |
| KCNJ11 | 1 | Dec 20, 2017 |
| KMT2A | 1 | Sep 26, 2017 |
| KMT2D | 4 | Sep 24, 2017 |
| LOC106780800 | 2 | Jan 27, 2017 |
| MAMLD1 | 1 | Aug 8, 2017 |
| MAP3K1 | 1 | Nov 8, 2016 |
| MVP-DT | 1 | Apr 17, 2018 |
| NBAS | 2 | Jul 12, 2017 |
| NDUFS3 | 1 | Nov 23, 2016 |
| NF1 | 1 | Apr 19, 2018 |
| NR0B1 | 1 | Apr 5, 2017 |
| NR5A1 | 1 | Oct 11, 2016 |
| OTC | 2 | Jun 7, 2016 |
| PCCB | 1 | Feb 24, 2014 |
| PHF6 | 1 | Jan 3, 2017 |
| POLG | 1 | Nov 8, 2016 |
| POLGARF | 1 | Nov 8, 2016 |
| PROKR2 | 1 | Oct 11, 2016 |
| PRRT2 | 1 | Apr 17, 2018 |
| RAI1 | 1 | Jan 3, 2017 |
| RYR1 | 1 | Sep 24, 2017 |
| SACS | 2 | Apr 17, 2018 |
| SLC12A3 | 1 | Oct 11, 2016 |
| SLC22A5 | 2 | May 26, 2016 |
| SLC25A13 | 6 | Jul 18, 2016 |
| SLC2A2 | 2 | Oct 18, 2017 |
| SLC34A1 | 1 | Aug 21, 2017 |
| SMAD4 | 1 | Sep 24, 2017 |
| SNHG14 | 1 | Jan 26, 2017 |
| SOS1 | 1 | Oct 19, 2017 |
| SRD5A2 | 4 | Sep 26, 2017 |
| SRY | 1 | Feb 3, 2017 |
| STK11 | 3 | Aug 24, 2016 |
| THRB | 2 | Mar 28, 2018 |
| TRPM6 | 2 | Mar 21, 2017 |
| UBE3A | 1 | Jan 26, 2017 |
| VPS33B | 1 | Jan 26, 2017 |