Gene Panel Examiner 


Input Refseq Gene Symbols, Entrez Gene IDs, or Ensembl Gene IDs Above and

1. MT-ATP6 Portal LSDB OMIM N
mitochondrially encoded ATP synthase 6
Variants: 66(66) LSDB, HGMD: , ClinVar: 12
2. MT-ATP8 Portal LSDB OMIM N
mitochondrially encoded ATP synthase 8
Variants: 12(12) LSDB, HGMD: , ClinVar: 1
Mitochondrial Disease: 500006
3. MT-CO1 Portal LSDB OMIM N
mitochondrially encoded cytochrome c oxidase I
Variants: 82(82) LSDB, HGMD: , ClinVar: 10
Mitochondrial Disease: 220110, 550500, 580000
4. MT-CO2 Portal LSDB OMIM N
mitochondrially encoded cytochrome c oxidase II
Variants: 36(36) LSDB, HGMD: , ClinVar: 5
Mitochondrial Disease: 220110
5. MT-CO3 Portal LSDB OMIM N
mitochondrially encoded cytochrome c oxidase III
Variants: 54(54) LSDB, HGMD: , ClinVar: 7
Mitochondrial Disease: 220110, LHON
6. MT-CYB Portal LSDB OMIM N
mitochondrially encoded cytochrome b
Variants: 90(90) LSDB, HGMD: , ClinVar: 66
Mitochondrial Disease: 500000, 601665, LHON, MTCYB
7. MT-ND1 Portal LSDB OMIM N
mitochondrially encoded NADH dehydrogenase 1
Variants: 87(87) LSDB, HGMD: , ClinVar: 23
Mitochondrial Disease: 252010, 500008, LDYT, LHON, MELAS SYNDROME
8. MT-ND2 Portal LSDB OMIM N
mitochondrially encoded NADH dehydrogenase 2
Variants: 49(49) LSDB, HGMD: , ClinVar: 6
Mitochondrial Disease: 252010, LHON
9. MT-ND3 Portal LSDB OMIM N
mitochondrially encoded NADH dehydrogenase 3
Variants: 24(24) LSDB, HGMD: , ClinVar: 7
Mitochondrial Disease: 252010, LDYT
10. MT-ND4 Portal LSDB OMIM N
mitochondrially encoded NADH dehydrogenase 4
Variants: 73(73) LSDB, HGMD: , ClinVar: 6
Mitochondrial Disease: 252010, LDYT, LHON, MELAS SYNDROME
11. MT-ND4L Portal LSDB OMIM N
mitochondrially encoded NADH dehydrogenase 4L
Variants: 22(22) LSDB, HGMD: , ClinVar: 2
Mitochondrial Disease: 252010, LDYT, LHON, MELAS SYNDROME
12. MT-ND5 Portal LSDB OMIM N
mitochondrially encoded NADH dehydrogenase 5
Variants: 135(135) LSDB, HGMD: , ClinVar: 14
Mitochondrial Disease: LHON, MELAS SYNDROME, MERRF
13. MT-ND6 Portal LSDB OMIM N
mitochondrially encoded NADH dehydrogenase 6
Variants: 43(43) LSDB, HGMD: , ClinVar: 16
Mitochondrial Disease: 553000, LDYT, LHON, MELAS SYNDROME
14. MT-RNR1 Portal LSDB OMIM N
mitochondrially encoded 12S RNA
Variants: 108(108) LSDB, HGMD: , ClinVar: 49
Mitochondrial Disease: 500008, 580000
15. MT-RNR2 Portal LSDB OMIM N
mitochondrially encoded 16S RNA
Variants: 104(104) LSDB, HGMD: , ClinVar: 2
Mitochondrial Disease: 515000
16. MT-TA Portal LSDB OMIM N
mitochondrially encoded tRNA alanine
Variants: 6(6) LSDB, HGMD: , ClinVar: 4
Mitochondrial Disease: CPEO,CPEO Plus
17. MT-TC Portal LSDB OMIM N
mitochondrially encoded tRNA cysteine
Variants: 10(10) LSDB, HGMD: , ClinVar: 2
Mitochondrial Disease: MELAS SYNDROME
18. MT-TD Portal LSDB OMIM N
mitochondrially encoded tRNA aspartic acid
Variants: 8(8) LSDB, HGMD: , ClinVar: 1
Mitochondrial Disease: MELAS SYNDROME
19. MT-TE Portal LSDB OMIM N
mitochondrially encoded tRNA glutamic acid
Variants: 12(12) LSDB, HGMD: , ClinVar: 4
Mitochondrial Disease: 500002, MIDD, MMIT
20. MT-TF Portal LSDB OMIM N
mitochondrially encoded tRNA phenylalanine
Variants: 18(18) LSDB, HGMD: , ClinVar: 7
Mitochondrial Disease: MELAS SYNDROME, MERRF
21. MT-TG Portal LSDB OMIM N
mitochondrially encoded tRNA glycine
Variants: 10(10) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: MELAS SYNDROME, MERRF
22. MT-TH Portal LSDB OMIM N
mitochondrially encoded tRNA histidine
Variants: 9(9) LSDB, HGMD: , ClinVar: 4
Mitochondrial Disease: 500008, MELAS SYNDROME, MERRF
23. MT-TI Portal LSDB OMIM N
mitochondrially encoded tRNA isoleucine
Variants: 22(22) LSDB, HGMD: , ClinVar: 8
Mitochondrial Disease: 500005, 500008
24. MT-TK Portal LSDB OMIM N
mitochondrially encoded tRNA lysine
Variants: 23(23) LSDB, HGMD: , ClinVar: 7
Mitochondrial Disease: 556500, LS, MELAS SYNDROME, MERRF, MIDD, MTDPS1
25. MT-TL1 Portal LSDB OMIM N
mitochondrially encoded tRNA leucine 1 (UUA/G)
Variants: 34(34) LSDB, HGMD: , ClinVar: 12
Mitochondrial Disease: 220110, CVS, KSS, MELAS SYNDROME, MERRF, MIDD
26. MT-TL2 Portal LSDB OMIM N
mitochondrially encoded tRNA leucine 2 (CUN)
Variants: 14(14) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: CPEO,CPEO Plus
27. MT-TM Portal LSDB OMIM N
mitochondrially encoded tRNA methionine
Variants: 8(8) LSDB, HGMD: , ClinVar: 1
Mitochondrial Disease: CPEO,CPEO Plus
28. MT-TN Portal LSDB OMIM N
mitochondrially encoded tRNA asparagine
Variants: 7(7) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: 220110, 252010
29. MT-TP Portal LSDB OMIM N
mitochondrially encoded tRNA proline
Variants: 9(9) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: 220110, 252010
30. MT-TQ Portal LSDB OMIM N
mitochondrially encoded tRNA glutamine
Variants: 16(16) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: MELAS SYNDROME
31. MT-TR Portal LSDB OMIM N
mitochondrially encoded tRNA arginine
Variants: 7(7) LSDB, HGMD: , ClinVar: 2
Mitochondrial Disease: MELAS SYNDROME
32. MT-TS1 Portal LSDB OMIM N
mitochondrially encoded tRNA serine 1 (UCN)
Variants: 23(23) LSDB, HGMD: , ClinVar: 13
Mitochondrial Disease: 500008, MELAS SYNDROME, MERRF
33. MT-TS2 Portal LSDB OMIM N
mitochondrially encoded tRNA serine 2 (AGU/C)
Variants: 11(11) LSDB, HGMD: , ClinVar: 2
Mitochondrial Disease: 500004, MELAS SYNDROME, MERRF
34. MT-TT Portal LSDB OMIM N
mitochondrially encoded tRNA threonine
Variants: 21(21) LSDB, HGMD: , ClinVar: 6
Mitochondrial Disease: 500004, MELAS SYNDROME, MERRF
35. MT-TV Portal LSDB OMIM N
mitochondrially encoded tRNA valine
Variants: 12(12) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: 500004, MELAS SYNDROME, MERRF
36. MT-TW Portal LSDB OMIM N
mitochondrially encoded tRNA tryptophan
Variants: 16(16) LSDB, HGMD: , ClinVar: 8
Mitochondrial Disease: CPEO,CPEO Plus, LS
37. MT-TY Portal LSDB OMIM N
mitochondrially encoded tRNA tyrosine
Variants: 5(5) LSDB, HGMD: , ClinVar: 4
Mitochondrial Disease: CPEO,CPEO Plus, LS