Wong Mito Lab, Molecular and Human Genetics (Baylor College of Medicine), WongLab-BCM
General information
Personnel
- Lee-Jun Wong, Principal Investigator
Phone: 713-798-7746
Email: ljwong@bcm.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3555
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACADVL | 352 | Jul 13, 2020 |
| DLG4 | 2 | Jul 13, 2020 |
| DVL2 | 2 | Jul 13, 2020 |
| FANCI | 18 | Nov 16, 2018 |
| FARS2 | 59 | Jun 13, 2018 |
| FBXL4 | 381 | Aug 14, 2017 |
| LOC126859565 | 28 | Jun 13, 2018 |
| LOC130060113 | 17 | Jul 13, 2020 |
| MIR6766 | 3 | Nov 16, 2018 |
| MPV17 | 9 | Dec 14, 2017 |
| MT-ATP6 | 263 | Oct 17, 2019 |
| MT-ATP8 | 83 | Oct 17, 2019 |
| MT-CO1 | 159 | Oct 17, 2019 |
| MT-CO2 | 88 | Oct 17, 2019 |
| MT-CO3 | 140 | Oct 17, 2019 |
| MT-CYB | 256 | Oct 17, 2019 |
| MT-ND1 | 140 | Oct 17, 2019 |
| MT-ND2 | 158 | Oct 17, 2019 |
| MT-ND3 | 40 | Oct 17, 2019 |
| MT-ND4 | 114 | Oct 17, 2019 |
| MT-ND4L | 27 | Oct 17, 2019 |
| MT-ND5 | 275 | Oct 17, 2019 |
| MT-ND6 | 88 | Oct 17, 2019 |
| MT-TA | 20 | Oct 17, 2019 |
| MT-TC | 30 | Oct 17, 2019 |
| MT-TD | 28 | Oct 17, 2019 |
| MT-TE | 18 | Oct 17, 2019 |
| MT-TF | 31 | Aug 28, 2019 |
| MT-TG | 29 | Oct 17, 2019 |
| MT-TH | 35 | Oct 17, 2019 |
| MT-TI | 22 | Oct 17, 2019 |
| MT-TK | 29 | Oct 17, 2019 |
| MT-TL1 | 30 | Aug 28, 2019 |
| MT-TL2 | 20 | Mar 15, 2020 |
| MT-TM | 14 | Oct 17, 2019 |
| MT-TN | 16 | Oct 17, 2019 |
| MT-TP | 19 | Aug 28, 2019 |
| MT-TQ | 27 | Oct 17, 2019 |
| MT-TR | 19 | Oct 17, 2019 |
| MT-TS1 | 25 | Oct 17, 2019 |
| MT-TS2 | 25 | Oct 17, 2019 |
| MT-TT | 53 | Aug 28, 2019 |
| MT-TV | 26 | Aug 28, 2019 |
| MT-TW | 32 | Oct 17, 2019 |
| MT-TY | 19 | Oct 17, 2019 |
| POLG | 408 | Oct 19, 2020 |
| POLGARF | 408 | Oct 19, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Combined oxidative phosphorylation defect type 14 | 54 | Jun 13, 2018 |
| Hereditary spastic paraplegia 77 | 6 | Jun 13, 2018 |
| Histiocytoid cardiomyopathy | 1 | Oct 17, 2019 |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 558 | Mar 15, 2020 |
| Leber optic atrophy | 9 | Oct 17, 2019 |
| Leigh syndrome | 1761 | Oct 17, 2019 |
| Mitochondrial DNA depletion syndrome 13 | 381 | Aug 14, 2017 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 9 | Dec 14, 2017 |
| Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | 13 | Oct 17, 2019 |
| NARP syndrome | 3 | Oct 17, 2019 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Oct 19, 2020 |
| Progressive sclerosing poliodystrophy | 407 | Nov 16, 2018 |
| Very long chain acyl-CoA dehydrogenase deficiency | 352 | Jul 13, 2020 |