Table 1 Genes targeted for capture and sequencing

COX4I2, COX6B1, NDUFA1, NDUFA2, NDUFA11, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, SDHA, SDHB, SDHC, SDHD, UQCRB, UQCRQ

ATPAF2, BCS1L, C20orf7, COX10, COX15, NDUFAF1NDUFAF3, NDUFAF4, SCO1, SCO2, SURF1

ABCB7, ACAT1, APTX, ASS1, BCKDHA, BCKDHB, CABC1, COQ9, CYCS, DBT, DLAT, DLD, ETHE1, FH, FXN, GFER, HADH, HADHA, HADHB, HMGCL, HMGCS2, MCCC2, OXCT1, PC, PCK2, PDHA1, PDHB, PDHX, PDSS1, PDSS2, PPM1B, PPM2C, PREPL, TAZ

ATXN7, DARS2, GFM1, LRPPRC, MRPS16, MRPS22, PUS1, RARS2, TSFM, TUFM

DNAJC19, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, TIMM8A

c10orf2, DGUOK, DNM1L, ETFA, ETFB, ETFDH, HSPD1, MFN2, MPV17, OPA1, PINK1, POLG2, RRM2B, SPG7, SUCLA2, SUCLG1, TK2, TYMP, WFS1

Candidate genes for mitochondrial disorders

ACOT7, AMACR, ATP5A1, ATP5B, ATP5C1, ATP5D, ATP5E, ATP5F1, ATP5G1, ATP5G2, ATP5G3, ATP5H, ATP5I, ATP5J, ATP5J2, ATP5O, ATP5S, ATPIF1, BCL2L13, C10orf65, C14orf2, COX4I1, COX5A, COX5B, COX6A1, COX6A2, COX6C, COX7A1, COX7A2, COX7B, COX7B2, COX7C, COX8A, COX8C, CYC1, DCI, FOXRED1, GAD1, GBAS, GNPAT, GPAM, HPDL, IVD, MGST3, MRRF, NDUFA10, NDUFA12, NDUFA13, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA8, NDUFA9, NDUFAB1, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS5, NDUFV3, NIPSNAP1, NIPSNAP3A, NIPSNAP3B, NPL, PAH, PHYH, PNPT1, PRO1853, RNMTL1, TMEM22, UQCR, UQCRC1, UQCRC2, UQCRFS1, UQCRH, USMG5

ATPAF1, COX11, COX17, COX18, COX19, ECSIT

COQ10B, COQ3, COQ4, COQ5, COQ6, COQ7, PDK1, PDK2, PDK3, PDK4, PDP2, PDPR

AARS2, CARS2, FARS2, IARS2, KARS, LARS2, MARS2, MRPL1, MRPL10, MRPL11, MRPL12, MRPL13, MRPL14, MRPL15, MRPL16, MRPL17, MRPL18, MRPL19, MRPL2, MRPL20, MRPL21, MRPL22, MRPL23, MRPL24, MRPL27, MRPL28, MRPL3, MRPL30, MRPL32, MRPL33, MRPL34, MRPL35, MRPL36, MRPL37, MRPL38, MRPL39, MRPL4, MRPL40, MRPL41, MRPL42, MRPL43, MRPL44, MRPL45, MRPL46, MRPL47, MRPL49, MRPL50, MRPL51, MRPL52, MRPL53, MRPL54, MRPL55, MRPL9, MRPS10, MRPS11, MRPS12, MRPS14, MRPS15, MRPS17, MRPS18A, MRPS18B, MRPS18C, MRPS2, MRPS21, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS29, MRPS30, MRPS31, MRPS33, MRPS34, MRPS35, MRPS36, MRPS5, MRPS6, MRPS7, MRPS9, MTG1, NARS2, NRF1, PARS2, RSPH9, SARS2, TARS2, TFAM, TFB1M, TFB2M, WARS2, YARS2

GRPEL1, HSPA9, PAM16, SAMM50, SLC25A1, SLC25A10, SLC25A11, SLC25A12, SLC25A14, SLC25A16, SLC25A17, SLC25A18, SLC25A2, SLC25A21, SLC25A23, SLC25A24, SLC25A25, SLC25A26, SLC25A29, SLC25A30, SLC25A31, SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A36, SLC25A38, SLC25A39, SLC25A40, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46, SLC25A5, SLC25A6, TIMM10, TIMM13, TIMM17A, TIMM17B, TIMM22, TIMM23, TIMM44, TIMM50, TIMM8B, TIMM9, TOMM20, TOMM22, TOMM34, TOMM40, TOMM40L, TOMM7, TOMM70A, UCP1, UCP2, UCP3, VDAC1, VDAC2, VDAC3

HSPE1, MFN1,