COX6A2 | Belgian Genetic Tests database

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Name:	cytochrome c oxidase subunit 6A2
Symbol:	COX6A2
Version of Orphanet:	2023-06-22 14:14:43
XREF(s):	Orphanet HGNC Ensembl SwissProt OMIM
Created:	04 Feb 2020 - 15:15
Changed:	22 Jun 2023 - 16:14

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Related Gene Panels

Myopathy (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABHD5	99.64	1
ACAD9	99.97	1
ACADM	99.64	1
ACADS	100.00	1
ACADVL	99.94	1
ACTA1	99.99	1
ACTN2	99.96	1
ADSS1	99.99	1
AGK	99.98	1
AGL	99.92	1
AGRN	99.83	1
ALDOA	100.00	1
ALG14	99.97	1
ALG2	99.95	1
ANO5	99.96	1
ANXA11	99.88	1
ASCC1	91.38	1
ATP1A2	99.96	1
ATP2A1	99.97	1
B3GALNT2	94.03	1
B4GAT1	99.95	1
BAG3	100.00	1
BIN1	100.00	1
BVES	99.97	1
CACNA1S	99.92	1
CAP2	99.97	1
CAPN3	99.98	1
CASQ1	99.91	1
CAV3	99.85	1
CAVIN1	99.99	1
CFL2	99.81	1
CHAT	99.77	1
CHD7	99.96	1
CHKB	99.89	1
CHRNA1	99.96	1
CHRNB1	99.99	1
CHRND	100.00	1
CHRNE	99.95	1
CHRNG	99.87	1
CLCN1	99.97	1
CNBP	99.97	1
COL12A1	99.95	1
COL13A1	99.56	1
COL25A1	99.96	1
COL6A1	100.00	1
COL6A2	99.96	1
COL6A3	99.99	1
COLQ	99.97	1
COX6A2	98.51	1
CPT2	99.99	1
CRPPA	99.59	1
CRYAB	99.98	1
DAG1	100.00	1
DCST2	99.92	1
DES	100.00	1
DGUOK	99.76	1
DMD	99.41	1
DMPK	99.98	1
DNAJB6	99.91	1
DNM2	99.96	1
DNMT3B	99.98	1
DOK7	99.73	1
DPAGT1	99.96	1
DPM2	100.00	1
DPM3	100.00	1
DYSF	99.99	1
EMD	97.92	1
ENO3	99.98	1
ETFA	99.84	1
ETFDH	99.76	1
FAM111B	99.99	1
FDX2	99.94	1
FHL1	99.92	1
FKRP	99.99	1
FKTN	99.91	1
FLAD1	100.00	1
FLNC	99.99	1
FXR1	99.81	1
GAA	99.99	1
GBE1	99.84	1
GFER	99.96	1
GFPT1	99.90	1
GGPS1	99.89	1
GMPPB	99.95	1
GNE	99.98	1
GYG1	99.97	1
GYS1	99.98	1
HACD1	99.78	1
HADH	99.97	1
HADHA	99.96	1
HADHB	99.97	1
HNRNPA1	100.00	1
HNRNPA2B1	99.95	1
HNRNPDL	99.92	1
INPP5K	99.99	1
ISCU	99.94	1
ITGA7	99.98	1
ITGA9	99.80	1
JAG2	98.50	1
KBTBD13	100.00	1
KCNJ2	100.00	1
KIF21A	99.80	1
KLHL40	100.00	1
KLHL41	99.96	1
KLHL9	100.00	1
KY	98.80	1
LAMA2	99.97	1
LAMB2	99.99	1
LAMP2	98.98	1
LARGE1	99.99	1
LDB3	98.02	1
LDHA	99.77	1
LIMS2	99.65	1
LMNA	99.98	1
LMOD3	99.96	1
LPIN1	99.97	1
LRP4	99.98	1
MAP3K20	99.92	1
MATR3	99.87	1
MB	99.99	1
MEGF10	99.90	1
MICU1	99.98	1
MLIP	99.94	1
MSTO1	98.87	1
MTM1	99.36	1
MUSK	99.97	1
MYBPC1	99.90	1
MYBPC3	99.98	1
MYH14	99.79	1
MYH2	99.97	1
MYH3	99.96	1
MYH7	100.00	1
MYL1	99.93	1
MYL2	99.98	1
MYMX	100.00	1
MYO18B	99.98	1
MYO9A	99.91	1
MYOD1	99.82	1
MYOT	99.98	1
MYPN	99.97	1
NEB	99.77	1
NPL	99.95	1
OPA1	99.87	1
ORAI1	97.73	1
PABPN1	99.67	1
PAX7	99.96	1
PFKM	99.82	1
PGAM2	100.00	1
PGK1	99.71	1
PGM1	99.89	1
PHKA1	99.57	1
PHKB	99.79	1
PHOX2A	96.75	1
PLEC	99.98	1
PNPLA2	99.99	1
PNPLA8	99.81	1
POGLUT1	99.91	1
POLG	99.98	1
POLG2	99.68	1
POMGNT1	99.98	1
POMGNT2	100.00	1
POMK	99.98	1
POMT1	99.91	1
POMT2	99.93	1
POPDC3	99.93	1
PREPL	99.96	1
PRKAG2	99.92	1
PYGM	99.98	1
PYROXD1	99.83	1
RAPSN	99.99	1
RBCK1	99.99	1
RXYLT1	99.53	1
RYR1	99.92	1
SCN4A	99.77	1
SELENON	95.81	1
SGCA	99.99	1
SGCB	99.62	1
SGCD	99.94	1
SGCG	99.87	1
SIL1	99.99	1
SLC18A3	100.00	1
SLC22A5	99.99	1
SLC25A20	99.90	1
SLC25A4	99.96	1
SLC5A7	99.97	1
SMCHD1	99.82	1
SMPX	99.37	1
SPEG	99.97	1
SQSTM1	100.00	1
STAC3	99.94	1
STIM1	99.97	1
SVIL	99.94	1
SYNE1	99.96	1
SYNE2	99.85	1
SYT2	99.89	1
TCAP	100.00	1
TIA1	99.56	1
TK2	99.99	1
TMEM126B	99.68	1
TMEM43	99.98	1
TNNC2	99.95	1
TNNI2	100.00	1
TNNT1	99.82	1
TNNT3	100.00	1
TNPO3	99.95	1
TNXB	99.95	1
TOP3A	99.95	1
TOR1AIP1	99.84	1
TPI1	99.95	1
TPM2	99.93	1
TPM3	99.95	1
TRAPPC11	99.59	1
TRDN	99.03	1
TRIM32	100.00	1
TRIP4	99.91	1
TRMT5	99.83	1
TTN	99.96	1
TUBB3	100.00	1
TWNK	100.00	1
UNC45B	99.93	1
VAMP1	99.70	1
VCP	99.92	1
VMA21	97.04	1
VWA1	91.35	1

mitochondrial disease, nuclear based (343 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS2	100.00	No comment
ABAT	100.00	No comment
ABCB7	100.00	No comment
ACAD9	100.00	No comment
ACO2	100.00	No comment
ADPRS	99.18	No comment
AFG3L2	95.05	No comment
AGK	100.00	No comment
AIFM1	100.00	No comment
ALDH1B1	100.00	No comment
ANO10	100.00	No comment
APTX	100.00	No comment
ATAD3A	98.67	No comment
ATAD3B	98.52	No comment
ATAD3C	97.28	No comment
ATL1	100.00	No comment
ATL3	100.00	No comment
ATP5F1A	100.00	No comment
ATP5F1B	100.00	No comment
ATP5F1C	100.00	No comment
ATP5F1D	86.59	No comment
ATP5F1E	100.00	No comment
ATP5IF1	100.00	No comment
ATP5MC1	100.00	No comment
ATP5MC2	100.00	No comment
ATP5MC3	100.00	No comment
ATP5MK	100.00	No comment
ATP5ME	100.00	No comment
ATP5MF	100.00	No comment
ATP5MG	100.00	No comment
ATP5MGL	100.00	No comment
ATP5PB	99.84	No comment
ATP5PD	99.81	No comment
ATP5PF	100.00	No comment
ATP5PO	100.00	No comment
ATPAF1	81.57	No comment
ATPAF2	100.00	No comment
BCS1L	100.00	No comment
BOLA1	100.00	No comment
BOLA2	100.00	No comment
BOLA3	84.43	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
C1QBP	97.23	No comment
CARS2	95.42	No comment
CEP89	100.00	No comment
CHCHD10	97.45	No comment
CHKB	99.69	No comment
CLPB	100.00	No comment
CLPP	100.00	No comment
COA1	100.00	No comment
COA3	100.00	No comment
COA5	100.00	No comment
COA6	100.00	No comment
COA7	100.00	No comment
COA8	100.00	No comment
COASY	100.00	No comment
COQ2	97.15	No comment
COQ4	100.00	No comment
COQ6	100.00	No comment
COQ7	100.00	No comment
COQ8A	100.00	No comment
COQ8B	90.08	No comment
COQ9	99.99	No comment
COX10	100.00	No comment
COX14	100.00	No comment
COX15	100.00	No comment
COX20	98.72	No comment
COX4I1	100.00	No comment
COX4I2	100.00	No comment
COX5A	97.33	No comment
COX5B	100.00	No comment
COX6A1	100.00	No comment
COX6A2	100.00	No comment
COX6B1	100.00	No comment
COX6B2	100.00	No comment
COX6C	100.00	No comment
COX7A1	100.00	No comment
COX7A2	100.00	No comment
COX7A2L	100.00	No comment
COX7B	99.88	No comment
COX7B2	100.00	No comment
COX7C	100.00	No comment
COX8A	100.00	No comment
COX8C	98.71	No comment
CYC1	88.46	No comment
CYCS	100.00	No comment
DARS2	100.00	No comment
DDHD1	98.94	No comment
DES	100.00	No comment
DGUOK	100.00	No comment
DHTKD1	99.98	No comment
DLAT	100.00	No comment
DLD	100.00	No comment
DLST	100.00	No comment
DMAC2L	100.00	No comment
DNA2	100.00	No comment
DNAJC19	100.00	No comment
DNAJC3	100.00	No comment
DNM1L	100.00	No comment
EARS2	100.00	No comment
ECHS1	99.99	No comment
ECSIT	100.00	No comment
ELAC2	99.99	No comment
ETHE1	99.88	No comment
FARS2	100.00	No comment
FASTKD2	100.00	No comment
FBXL4	100.00	No comment
FDX2	100.00	No comment
FDXR	100.00	No comment
FH	100.00	No comment
FOXRED1	100.00	No comment
FXN	89.89	No comment
GARS1	99.53	No comment
GATB	100.00	No comment
GATC	100.00	No comment
GATM	99.26	No comment
GFER	97.55	No comment
GFM1	100.00	No comment
GFM2	100.00	No comment
GLRX5	84.06	No comment
GLUD1	99.45	No comment
GTPBP3	100.00	No comment
HARS2	100.00	No comment
HCCS	100.00	No comment
HIBCH	100.00	No comment
HLCS	100.00	No comment
HSD17B10	100.00	No comment
HSPA9	100.00	No comment
HSPD1	99.53	No comment
HTRA2	100.00	No comment
IARS2	100.00	No comment
IBA57	87.89	No comment
ISCA1	99.77	No comment
ISCA2	100.00	No comment
ISCU	99.39	No comment
KARS1	100.00	No comment
LACTB	91.87	No comment
LARS2	100.00	No comment
LIAS	100.00	No comment
LIPT1	100.00	No comment
LIPT2	94.78	No comment
LONP1	99.83	No comment
LRPPRC	99.14	No comment
LYRM4	68.80	No comment
LYRM7	100.00	No comment
MARS2	100.00	No comment
MCUR1	79.55	No comment
MDH2	98.91	No comment
MFF	100.00	No comment
MFN2	100.00	No comment
MGME1	100.00	No comment
MICOS13	100.00	No comment
MICU1	100.00	No comment
MIEF2	100.00	No comment
MMUT	100.00	No comment
MPC1	100.00	No comment
MPV17	100.00	No comment
MRM2	99.91	No comment
MRM3	100.00	No comment
MRPL12	92.58	No comment
MRPL3	100.00	No comment
MRPL44	100.00	No comment
MRPL57	100.00	No comment
MRPS14	100.00	No comment
MRPS16	100.00	No comment
MRPS2	98.34	No comment
MRPS22	100.00	No comment
MRPS34	97.33	No comment
MRPS7	100.00	No comment
MRRF	100.00	No comment
MSTO1	100.00	No comment
MTFMT	99.11	No comment
MTO1	95.75	No comment
MTPAP	100.00	No comment
NADK2	90.73	No comment
NARS2	100.00	No comment
NAXE	99.78	No comment
NDUFA1	100.00	No comment
NDUFA10	95.87	No comment
NDUFA11	98.06	No comment
NDUFA12	100.00	No comment
NDUFA13	100.00	No comment
NDUFA2	100.00	No comment
NDUFA3	100.00	No comment
NDUFA4	99.68	No comment
NDUFA5	87.27	No comment
NDUFA6	100.00	No comment
NDUFA7	100.00	No comment
NDUFA8	100.00	No comment
NDUFA9	100.00	No comment
NDUFAB1	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF3	100.00	No comment
NDUFAF4	100.00	No comment
NDUFAF5	100.00	No comment
NDUFAF6	93.73	No comment
NDUFAF7	100.00	No comment
NDUFB1	100.00	No comment
NDUFB10	100.00	No comment
NDUFB11	99.52	No comment
NDUFB2	100.00	No comment
NDUFB3	100.00	No comment
NDUFB4	99.85	No comment
NDUFB5	100.00	No comment
NDUFB6	100.00	No comment
NDUFB7	100.00	No comment
NDUFB8	100.00	No comment
NDUFB9	100.00	No comment
NDUFC1	100.00	No comment
NDUFC2	100.00	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	100.00	No comment
NDUFS5	99.18	No comment
NDUFS6	100.00	No comment
NDUFS7	99.49	No comment
NDUFS8	100.00	No comment
NDUFV1	100.00	No comment
NDUFV2	100.00	No comment
NDUFV3	99.46	No comment
NFS1	93.58	No comment
NFU1	99.75	No comment
NSUN3	100.00	No comment
NUBPL	100.00	No comment
OGDH	100.00	No comment
MED12	100.00	No comment
OPA3	100.00	No comment
OXA1L	100.00	No comment
PANK2	98.60	No comment
PARS2	100.00	No comment
PODXL	100.00	No comment
PDHA1	98.17	No comment
PDHB	100.00	No comment
PDHX	99.87	No comment
PDK1	99.19	No comment
PDK2	100.00	No comment
PDK3	99.76	No comment
PDK4	100.00	No comment
PDP1	100.00	No comment
PDSS1	86.24	No comment
PDSS2	100.00	No comment
PET100	100.00	No comment
PET117	100.00	No comment
PIGA	100.00	No comment
PINK1	92.83	No comment
PISD	100.00	No comment
PITRM1	100.00	No comment
PMPCA	100.00	No comment
PNPT1	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
PPA2	99.97	No comment
PTRH2	100.00	No comment
PUS1	99.08	No comment
PYCR1	100.00	No comment
PYCR2	100.00	No comment
QRSL1	100.00	No comment
RARS2	100.00	No comment
REEP1	97.37	No comment
RMND1	100.00	No comment
RNASEH1	100.00	No comment
RRM2B	100.00	No comment
SARS2	100.00	No comment
SCO1	100.00	No comment
SCO2	100.00	No comment
SDHA	98.02	No comment
SDHAF1	96.03	No comment
SDHB	100.00	No comment
SDHD	80.22	No comment
SERAC1	100.00	No comment
SFXN4	100.00	No comment
SLC19A2	99.50	No comment
SLC19A3	100.00	No comment
SLC25A1	93.77	No comment
SLC25A12	100.00	No comment
SLC25A13	99.94	No comment
SLC25A19	100.00	No comment
SLC25A22	100.00	No comment
SLC25A24	99.82	No comment
SLC25A3	100.00	No comment
SLC25A32	100.00	No comment
SLC25A4	99.09	No comment
SLC25A46	100.00	No comment
SLC25A5	98.36	No comment
SLC25A6	100.00	No comment
SLC39A8	97.00	No comment
SPART	100.00	No comment
SPAST	100.00	No comment
AFG2A	100.00	No comment
SPG7	96.56	No comment
SQSTM1	93.68	No comment
STXBP1	100.00	No comment
SUCLA2	100.00	No comment
SUCLG1	95.74	No comment
SUCLG2	99.95	No comment
SURF1	87.74	No comment
TACO1	99.90	No comment
TANGO2	100.00	No comment
TARS2	100.00	No comment
WWTR1	99.81	No comment
THG1L	100.00	No comment
TIMM44	99.93	No comment
TIMM50	100.00	No comment
TIMM8A	100.00	No comment
TIMMDC1	100.00	No comment
TK2	95.90	No comment
TMEM126A	100.00	No comment
TMEM126B	100.00	No comment
TMEM70	100.00	No comment
TPK1	100.00	No comment
TRIAP1	100.00	No comment
TRIT1	100.00	No comment
TRMT10C	100.00	No comment
TRMT5	100.00	No comment
TRMU	100.00	No comment
TRNT1	100.00	No comment
TSFM	93.22	No comment
TTC19	85.12	No comment
TUFM	100.00	No comment
TWNK	100.00	No comment
TXN2	100.00	No comment
TYMP	91.72	No comment
UBA52	100.00	No comment
UQCC1	100.00	No comment
UQCC2	100.00	No comment
UQCC3	100.00	No comment
UQCR10	100.00	No comment
UQCR11	100.00	No comment
UQCRB	100.00	No comment
UQCRC1	99.82	No comment
UQCRC2	100.00	No comment
UQCRFS1	98.87	No comment
UQCRH	100.00	No comment
UQCRQ	100.00	No comment
VARS2	100.00	No comment
VPS13D	100.00	No comment
WARS2	100.00	No comment
YARS2	100.00	No comment
YME1L1	100.00	No comment