Wellcome Centre for Mitochondrial Research (Newcastle University), WCMR
General information
Wellcome Centre for Mitochondrial Research, WCMR
Newcastle University
Newcastle upon Tyne
Tyne and Wear
United Kingdom - NE2 4HH
http://www.newcastle-mitochondria.com/
Organization ID: 504862
Newcastle University
Newcastle upon Tyne
Tyne and Wear
United Kingdom - NE2 4HH
http://www.newcastle-mitochondria.com/
Organization ID: 504862
Personnel
- Charlotte Alston, Contact
Phone: +441912083007
Email: charlotte.alston@ncl.ac.uk - Kyle Thompson, Staff
Phone: 01912228877
Email: kyle.thompson@ncl.ac.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 109
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATP5F1D | 1 | Nov 21, 2017 |
| COQ8A | 3 | Sep 18, 2019 |
| DES | 5 | Aug 16, 2016 |
| DNM1L | 4 | Oct 8, 2021 |
| GFER | 2 | Apr 7, 2017 |
| GFM2 | 3 | Sep 15, 2017 |
| LDB3 | 2 | Aug 16, 2016 |
| LOC110121486 | 1 | Aug 16, 2016 |
| LOC126806913 | 1 | Apr 7, 2017 |
| LOC130000896 | 1 | Apr 7, 2017 |
| LOC130058203 | 1 | Apr 7, 2017 |
| LOC130061928 | 2 | Oct 9, 2019 |
| LOC130061929 | 1 | Oct 9, 2019 |
| MT-ATP6 | 4 | May 22, 2017 |
| MT-ATP8 | 1 | May 22, 2017 |
| MT-CO1 | 1 | May 22, 2017 |
| MT-CO2 | 2 | May 22, 2017 |
| MT-CO3 | 1 | May 22, 2017 |
| MT-ND1 | 2 | Dec 9, 2019 |
| MT-ND2 | 1 | May 22, 2017 |
| MT-ND3 | 1 | May 22, 2017 |
| MT-ND4 | 1 | May 22, 2017 |
| MT-ND4L | 1 | May 22, 2017 |
| MT-ND5 | 3 | May 22, 2017 |
| MT-ND6 | 1 | Dec 9, 2019 |
| MT-TA | 3 | May 22, 2017 |
| MT-TC | 1 | May 22, 2017 |
| MT-TD | 1 | May 22, 2017 |
| MT-TE | 2 | May 22, 2017 |
| MT-TG | 1 | May 22, 2017 |
| MT-TH | 1 | May 22, 2017 |
| MT-TI | 1 | May 22, 2017 |
| MT-TK | 2 | May 22, 2017 |
| MT-TL1 | 1 | May 22, 2017 |
| MT-TL2 | 2 | May 22, 2017 |
| MT-TM | 1 | May 22, 2017 |
| MT-TN | 1 | May 22, 2017 |
| MT-TQ | 1 | May 22, 2017 |
| MT-TR | 1 | May 22, 2017 |
| MT-TS1 | 1 | May 22, 2017 |
| MT-TS2 | 1 | May 22, 2017 |
| MT-TW | 1 | May 22, 2017 |
| MT-TY | 1 | May 22, 2017 |
| MYOT | 1 | Aug 16, 2016 |
| NDUFA6 | 6 | Jul 19, 2018 |
| NDUFAF8 | 4 | Oct 9, 2019 |
| NDUFC2 | 2 | Feb 10, 2020 |
| NDUFC2-KCTD14 | 2 | Feb 10, 2020 |
| OPA1 | 5 | Apr 7, 2017 |
| OXA1L | 2 | Jul 25, 2018 |
| PET100 | 1 | May 14, 2014 |
| PIGY | 1 | Jan 18, 2021 |
| PKD2L2-DT | 1 | Aug 16, 2016 |
| POLG | 6 | Apr 7, 2017 |
| POLGARF | 6 | Apr 7, 2017 |
| PYURF | 1 | Jan 18, 2021 |
| RMND1 | 9 | Dec 22, 2015 |
| RRM2B | 2 | Apr 7, 2017 |
| SDHD | 1 | Jan 27, 2015 |
| SLC25A4 | 2 | Aug 16, 2016 |
| SPG7 | 2 | Apr 7, 2017 |
| STXBP2 | 1 | May 14, 2014 |
| TMEM126B | 2 | May 18, 2016 |
| TOP3A | 2 | Nov 15, 2017 |
| TRMT10C | 2 | Mar 8, 2016 |
| TWNK | 7 | Apr 7, 2017 |
| YARS2 | 5 | Oct 8, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Congenital lactic acidosis | 1 | May 14, 2014 |
| Fatal infantile mitochondrial cardiomyopathy | 1 | Jan 27, 2015 |
| Inborn mitochondrial myopathy | 2 | Dec 15, 2014 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 1 | May 14, 2014 |
| Mitochondrial disease | 97 | Oct 8, 2021 |
| Myofibrillar myopathy | 8 | Aug 16, 2016 |