Centre for Genomic Medicine, Manchester (Central Manchester University Hospitals), MCGM
General information
Personnel
- Graeme Black
Phone: +44-1612768703
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 327
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 16 | Apr 26, 2016 |
| ADGRV1 | 7 | Aug 29, 2019 |
| BBS1 | 4 | Aug 29, 2019 |
| BBS12 | 1 | Aug 29, 2019 |
| BBS2 | 1 | Aug 29, 2019 |
| BBS4 | 1 | Apr 26, 2016 |
| BBS5 | 1 | Aug 29, 2019 |
| BBS7 | 2 | Aug 29, 2019 |
| BCOR | 1 | Dec 12, 2016 |
| BEST1 | 1 | Dec 12, 2016 |
| BLOC1S1-RDH5 | 1 | Apr 26, 2016 |
| CACNA1F | 2 | Mar 29, 2022 |
| CDH23 | 2 | Apr 26, 2016 |
| CDHR1 | 1 | Apr 26, 2016 |
| CDKL5 | 1 | Jan 21, 2016 |
| CEP290 | 9 | Aug 29, 2019 |
| CERKL | 3 | Dec 12, 2016 |
| CHM | 1 | Dec 12, 2016 |
| CLRN1 | 4 | Aug 29, 2019 |
| CLRN1-AS1 | 1 | Aug 29, 2019 |
| CNGA1 | 3 | Apr 26, 2016 |
| CNGA3 | 4 | Aug 29, 2019 |
| CNGB1 | 6 | Apr 26, 2016 |
| CNGB3 | 1 | Dec 12, 2016 |
| CRB1 | 10 | Apr 26, 2016 |
| CRX | 3 | Apr 26, 2016 |
| EYS | 8 | Aug 29, 2019 |
| FAM161A | 1 | Apr 26, 2016 |
| FAM20A | 1 | Aug 29, 2019 |
| FZD4 | 2 | Aug 29, 2019 |
| GNAT2 | 1 | Aug 29, 2019 |
| GPHN | 4 | Apr 26, 2016 |
| GUCY2D | 2 | Apr 26, 2016 |
| IFT140 | 1 | Aug 29, 2019 |
| IMPG2 | 3 | Apr 26, 2016 |
| IQCB1 | 1 | Aug 29, 2019 |
| KCNV2 | 1 | Dec 12, 2016 |
| KIF11 | 1 | Aug 29, 2019 |
| LCA5 | 1 | Apr 26, 2016 |
| LOC101927157 | 3 | Apr 26, 2016 |
| LOC105371046 | 1 | Aug 29, 2019 |
| LOC111982869 | 1 | Apr 26, 2016 |
| LOC122152296 | 1 | Apr 26, 2016 |
| LOC126805793 | 1 | Jan 21, 2016 |
| LOC129388577 | 1 | Aug 29, 2019 |
| LOC129390514 | 1 | Aug 29, 2019 |
| LOC129935068 | 1 | Aug 29, 2019 |
| LOC129935214 | 1 | Apr 26, 2016 |
| LOC130055387 | 1 | Apr 26, 2016 |
| LRAT | 1 | Apr 26, 2016 |
| LRP5 | 2 | Apr 26, 2016 |
| MERTK | 6 | Dec 12, 2016 |
| MVK | 3 | Aug 29, 2019 |
| MYO7A | 10 | Aug 29, 2019 |
| NMNAT1 | 1 | Dec 12, 2016 |
| NPHP4 | 2 | Aug 29, 2019 |
| NR2E3 | 1 | Apr 26, 2016 |
| NRL | 1 | Apr 26, 2016 |
| OTX2 | 1 | Aug 29, 2019 |
| PCDH15 | 6 | Aug 29, 2019 |
| PDE6A | 2 | Apr 26, 2016 |
| PDE6B | 3 | Apr 26, 2016 |
| PDE6C | 2 | Apr 26, 2016 |
| PEX11B | 1 | Dec 12, 2016 |
| PHF3 | 2 | Aug 29, 2019 |
| PRKAR1A | 1 | Aug 29, 2019 |
| PROM1 | 11 | Aug 29, 2019 |
| PRPF3 | 1 | Aug 29, 2019 |
| PRPF31 | 8 | Apr 26, 2016 |
| PRPF31-AS1 | 3 | Apr 26, 2016 |
| PRPF8 | 3 | Apr 26, 2016 |
| PRSS23 | 2 | Aug 29, 2019 |
| PTS | 1 | Dec 12, 2016 |
| RBP3 | 2 | Jan 21, 2016 |
| RDH12 | 4 | Apr 26, 2016 |
| RDH5 | 1 | Apr 26, 2016 |
| RHO | 67 | Oct 28, 2020 |
| RP1 | 7 | Apr 26, 2016 |
| RP2 | 2 | Apr 26, 2016 |
| RPE65 | 1 | Apr 26, 2016 |
| RPGR | 4 | Apr 26, 2016 |
| RPGRIP1 | 6 | Dec 12, 2016 |
| RS1 | 1 | Jan 21, 2016 |
| SNRNP200 | 2 | Apr 26, 2016 |
| SPATA7 | 2 | Apr 26, 2016 |
| TOPORS | 1 | Jan 21, 2016 |
| TRPM1 | 3 | Aug 29, 2019 |
| USH1C | 1 | Apr 26, 2016 |
| USH1G | 1 | Aug 29, 2019 |
| USH2A | 41 | Aug 29, 2019 |
| USH2A-AS1 | 6 | Aug 29, 2019 |
| USH2A-AS2 | 2 | Aug 29, 2019 |
| VPS13B | 6 | Aug 29, 2019 |
| WHRN | 2 | Apr 26, 2016 |
| ZDHHC24 | 4 | Aug 29, 2019 |
| ZFYVE26 | 2 | Apr 26, 2016 |