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 | 264 | Oct 17, 2019 |
MT-ATP8 | 84 | Oct 17, 2019 |
MT-CO1 | 160 | Oct 17, 2019 |
MT-CO2 | 89 | Oct 17, 2019 |
MT-CO3 | 140 | Oct 17, 2019 |
MT-CYB | 256 | Oct 17, 2019 |
MT-ND1 | 141 | Oct 17, 2019 |
MT-ND2 | 159 | Oct 17, 2019 |
MT-ND3 | 40 | Oct 17, 2019 |
MT-ND4 | 114 | Oct 17, 2019 |
MT-ND4L | 27 | Oct 17, 2019 |
MT-ND5 | 276 | Oct 17, 2019 |
MT-ND6 | 88 | Oct 17, 2019 |
MT-RNR1 | 1 | Oct 17, 2019 |
MT-RNR2 | 1 | Oct 17, 2019 |
MT-TA | 21 | Oct 17, 2019 |
MT-TC | 31 | Oct 17, 2019 |
MT-TD | 29 | Oct 17, 2019 |
MT-TE | 18 | Oct 17, 2019 |
MT-TF | 32 | Oct 17, 2019 |
MT-TG | 29 | Oct 17, 2019 |
MT-TH | 35 | Oct 17, 2019 |
MT-TI | 23 | Oct 17, 2019 |
MT-TK | 30 | Oct 17, 2019 |
MT-TL1 | 31 | Oct 17, 2019 |
MT-TL2 | 20 | Mar 15, 2020 |
MT-TM | 15 | Oct 17, 2019 |
MT-TN | 17 | Oct 17, 2019 |
MT-TP | 19 | Aug 28, 2019 |
MT-TQ | 28 | Oct 17, 2019 |
MT-TR | 19 | Oct 17, 2019 |
MT-TS1 | 26 | Oct 17, 2019 |
MT-TS2 | 25 | Oct 17, 2019 |
MT-TT | 53 | Aug 28, 2019 |
MT-TV | 27 | Oct 17, 2019 |
MT-TW | 33 | Oct 17, 2019 |
MT-TY | 20 | 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 |
Leber optic atrophy | 9 | Oct 17, 2019 |
Leigh syndrome | 1761 | Oct 17, 2019 |
MELAS syndrome | 558 | Mar 15, 2020 |
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 |