North West Genomic Laboratory Hub (Manchester University NHS Foundation Trust)
General information
North West Genomic Laboratory Hub
Manchester University NHS Foundation Trust
Oxford Road
Manchester
United Kingdom - M13 9WL
https://mft.nhs.uk/nwglh
Organization ID: 283808
Manchester University NHS Foundation Trust
Oxford Road
Manchester
United Kingdom - M13 9WL
https://mft.nhs.uk/nwglh
Organization ID: 283808
Personnel
- Thomas Livesey, Informatics staff
Phone: 01612766741
Email: gmbinformatics@mft.nhs.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 284
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 3 | Jun 1, 2026 |
| ABCD1 | 9 | Apr 8, 2026 |
| ACAD8 | 1 | Jul 1, 2026 |
| ACADM | 6 | Apr 9, 2026 |
| ACTA1 | 1 | Jan 17, 2025 |
| ACTA2 | 1 | Apr 22, 2026 |
| ACTN1 | 1 | Jun 15, 2026 |
| ACVRL1 | 1 | Jun 1, 2026 |
| ADAMTS13 | 1 | Jul 1, 2026 |
| ADAR | 1 | Mar 27, 2024 |
| AGL | 1 | May 5, 2026 |
| AICDA | 1 | May 5, 2026 |
| ALDH7A1 | 2 | Mar 27, 2024 |
| ALDOB | 4 | Apr 9, 2026 |
| ALPK3 | 1 | Jan 17, 2025 |
| AP5Z1 | 1 | May 5, 2026 |
| APOB | 1 | Mar 27, 2024 |
| CACNA1A | 1 | Mar 27, 2024 |
| CACNA1F | 1 | May 5, 2026 |
| CARD11 | 1 | Jun 15, 2026 |
| CASK | 1 | Mar 27, 2024 |
| CDKL5 | 8 | Apr 9, 2026 |
| CEP85L | 1 | Oct 11, 2024 |
| CFI | 1 | May 5, 2026 |
| CFTR | 6 | Mar 27, 2024 |
| CFTR-AS2 | 3 | Mar 27, 2024 |
| CHD2 | 1 | Mar 27, 2024 |
| CHD8 | 31 | May 27, 2026 |
| CHM | 6 | Apr 8, 2026 |
| COL11A2 | 1 | Mar 27, 2024 |
| CP | 1 | Jul 1, 2026 |
| CPAMD8 | 1 | May 20, 2026 |
| CSF3R | 1 | Jun 15, 2026 |
| CTNS | 1 | May 5, 2026 |
| CYBB | 1 | Jun 15, 2026 |
| DHCR7 | 4 | Apr 9, 2026 |
| DMD | 3 | Apr 22, 2026 |
| DSG2 | 1 | May 20, 2026 |
| DSP | 1 | May 20, 2026 |
| EFEMP2 | 1 | Jan 17, 2025 |
| EIF3F | 1 | Mar 27, 2024 |
| ELN | 1 | Jul 1, 2026 |
| EZH2 | 1 | Mar 27, 2024 |
| F11 | 5 | Jul 1, 2026 |
| F13A1 | 1 | Jun 1, 2026 |
| F5 | 2 | Jul 1, 2026 |
| F7 | 2 | Jul 1, 2026 |
| F8 | 16 | Jul 1, 2026 |
| F9 | 5 | Jul 1, 2026 |
| FBN1 | 3 | Jun 1, 2026 |
| FGA | 1 | May 5, 2026 |
| FGB | 1 | Jul 1, 2026 |
| FGFR3 | 1 | May 29, 2026 |
| FLI1 | 2 | Jul 1, 2026 |
| FTL | 3 | Jun 15, 2026 |
| GAA | 1 | May 5, 2026 |
| GCDH | 7 | Apr 9, 2026 |
| GJB2 | 1 | Apr 22, 2026 |
| GLA | 1 | May 5, 2026 |
| GP9 | 2 | Jun 1, 2026 |
| GRN | 1 | Mar 27, 2024 |
| HRAS | 1 | May 5, 2026 |
| HSALR1 | 1 | Jun 15, 2026 |
| IGSF1 | 1 | May 5, 2026 |
| ITGA2B | 1 | Jul 1, 2026 |
| KCNH2 | 1 | Jan 17, 2025 |
| KCNQ1 | 5 | May 20, 2026 |
| KCNQ3 | 1 | May 5, 2026 |
| KRAS | 1 | May 5, 2026 |
| LDLR | 1 | Mar 27, 2024 |
| LIPA | 1 | May 5, 2026 |
| LMNA | 4 | May 20, 2026 |
| LOC111674472 | 2 | Mar 27, 2024 |
| LOC126805877 | 1 | May 20, 2026 |
| LOC126861888 | 2 | May 27, 2026 |
| LOC126861898 | 1 | Oct 11, 2024 |
| LOC129391064 | 2 | Mar 27, 2026 |
| LOC129931597 | 1 | Jan 17, 2025 |
| LOC130064892 | 1 | Jun 15, 2026 |
| LRRC56 | 1 | May 5, 2026 |
| MAN2B1 | 4 | Mar 27, 2026 |
| MECP2 | 1 | Jul 1, 2026 |
| MED13L | 1 | May 5, 2026 |
| MOCS1 | 1 | Apr 22, 2026 |
| MPL | 1 | Jul 1, 2026 |
| MVK | 1 | May 5, 2026 |
| MYBPC3 | 7 | May 20, 2026 |
| MYH7 | 7 | May 20, 2026 |
| NFKB1 | 1 | Jun 1, 2026 |
| NHS | 1 | May 20, 2026 |
| NOTCH3 | 3 | Mar 27, 2024 |
| NYX | 1 | May 20, 2026 |
| OCA2 | 2 | Jun 1, 2026 |
| OPA1 | 4 | May 20, 2026 |
| OPA1-AS1 | 1 | Apr 22, 2026 |
| OTC | 3 | Apr 8, 2026 |
| OTUD5 | 1 | Apr 22, 2026 |
| PAX6 | 1 | Apr 22, 2026 |
| PIEZO1 | 1 | Jun 15, 2026 |
| PKLR | 1 | Jun 15, 2026 |
| PKP2 | 3 | Jan 17, 2025 |
| PLN | 1 | Oct 11, 2024 |
| PLXNB3-AS1 | 6 | Apr 8, 2026 |
| PPT1 | 3 | Jan 5, 2026 |
| PRKAG2 | 1 | May 5, 2026 |
| PRPH2 | 1 | Jun 1, 2026 |
| PTCHD1 | 1 | May 5, 2026 |
| RBM20 | 1 | Jan 17, 2025 |
| RELA | 1 | Jul 1, 2026 |
| RHO | 1 | May 20, 2026 |
| RP1 | 1 | May 20, 2026 |
| RPE65 | 1 | Jan 17, 2025 |
| RPGR | 2 | Jan 17, 2025 |
| RPL36A-HNRNPH2 | 1 | May 5, 2026 |
| RS1 | 12 | Apr 9, 2026 |
| SASH3 | 1 | Jun 1, 2026 |
| SCN5A | 2 | May 20, 2026 |
| SEC23B | 1 | Jun 15, 2026 |
| SERPINC1 | 1 | Jun 1, 2026 |
| SERPING1 | 2 | Jun 15, 2026 |
| SETD5 | 1 | May 5, 2026 |
| SHANK3 | 1 | May 5, 2026 |
| SLC17A5 | 1 | May 5, 2026 |
| SLC22A5 | 1 | May 5, 2026 |
| SLFN14 | 1 | Jun 1, 2026 |
| SPTB | 1 | Jun 1, 2026 |
| TGFB2 | 1 | May 20, 2026 |
| TNNI3 | 1 | Jan 17, 2025 |
| TNNT2 | 2 | May 20, 2026 |
| TPM1 | 2 | Jan 17, 2025 |
| TTN | 4 | Apr 22, 2026 |
| TTN-AS1 | 3 | Apr 22, 2026 |
| TYR | 1 | May 5, 2026 |
| USH2A | 1 | Jan 17, 2025 |
| USH2A-AS1 | 1 | Jan 17, 2025 |
| VWF | 8 | Jul 1, 2026 |
| WAS | 2 | Jul 1, 2026 |
| WFS1 | 2 | May 20, 2026 |