ATP5MC3 | Belgian Genetic Tests database

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Name:	ATP synthase membrane subunit c locus 3
Symbol:	ATP5MC3
XREF(s):	OMIM HGNC ORPHANET
Created:	04 Aug 2022 - 10:38
Changed:	04 Aug 2022 - 10:39

Related Genetic Tests

Related Gene Panels

Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AMPD2	99.99	1
AP4B1	99.97	1
ATP13A2	99.98	1
CAMTA1	99.97	1
COA7	100.00	1
COQ8A	100.00	1
COX20	99.40	1
DARS2	99.86	1
EIF2B3	99.95	1
FLVCR1	99.93	1
GDAP2	99.96	1
GJC2	96.12	1
HPDL	100.00	1
IBA57	96.45	1
KCNA2	100.00	1
KCND3	100.00	1
MMACHC	99.99	1
MSTO1	98.87	1
PUM1	99.95	1
RNF220	99.95	1
SLC9A1	99.86	1
TMEM240	99.83	1
TOE1	99.99	1
VPS13D	99.85	1
ALDH18A1	99.96	1
CWF19L1	99.89	1
ENTPD1	99.90	1
ERLIN1	99.96	1
NKX6-2	96.38	1
NT5C2	99.89	1
PHYH	99.65	1
POLR3A	99.95	1
ATM	99.83	1
BSCL2	100.00	1
CAPN1	100.00	1
CLP1	100.00	1
FAR1	99.83	1
HIKESHI	99.89	1
MRE11	99.90	1
SCYL1	99.64	1
SPTBN2	99.99	1
TPP1	99.88	1
AAAS	99.98	1
B4GALNT1	99.95	1
EIF2B1	99.96	1
KCNA1	99.96	1
KIF5A	99.93	1
MTRFR	99.85	1
PRICKLE1	99.97	1
SCN8A	99.90	1
VAMP1	99.70	1
ATP7B	99.99	1
ATP8A2	99.96	1
EXOSC8	99.69	1
FGF14	99.79	1
KPNA3	99.96	1
SACS	99.98	1
SPART	99.99	1
AP4S1	87.70	1
ATL1	99.95	1
DDHD1	99.98	1
EIF2B2	99.84	1
GALC	99.88	1
GCH1	99.74	1
GLRX5	98.29	1
IRF2BPL	98.65	1
NPC2	99.99	1
TMEM63C	99.99	1
VRK1	99.94	1
ZFYVE26	99.96	1
AP4E1	99.89	1
CLN6	98.04	1
HEXA	99.98	1
NIPA1	96.26	1
POLG	99.98	1
SPG11	99.94	1
SPG21	99.99	1
TTBK2	99.88	1
WDR73	99.99	1
ARL6IP1	99.84	1
CHMP1A	100.00	1
FA2H	99.93	1
SPG7	99.99	1
STUB1	99.73	1
CACNA1G	99.89	1
COASY	99.98	1
GFAP	99.94	1
GOSR2	99.75	1
KIF1C	99.99	1
NPTX1	99.35	1
PCYT2	97.60	1
TSEN54	98.24	1
VPS53	99.98	1
WDR45B	99.96	1
WDR81	100.00	1
AFG3L2	99.82	1
NPC1	99.84	1
ATCAY	99.99	1
ATP1A3	99.99	1
C19ORF12	99.36	1
CACNA1A	99.66	1
CPT1C	99.99	1
DNMT1	99.88	1
EEF2	99.99	1
KCNC3	94.29	1
MAG	99.81	1
OPA3	100.00	1
PNKP	100.00	1
PNPLA6	99.88	1
PRKCG	99.90	1
RTN2	99.99	1
TUBB4A	98.81	1
ALS2	99.91	1
ATP5MC3	100.00	1
CYP27A1	99.96	1
DARS1	99.87	1
EIF2B4	99.94	1
HSPD1	99.95	1
KIDINS220	99.97	1
KIF1A	99.96	1
MARS2	100.00	1
PGAP1	99.64	1
REEP1	99.99	1
SELENOI	99.88	1
SLC1A4	99.95	1
SPAST	99.83	1
ABHD12	99.11	1
DNAJC5	99.99	1
PDYN	99.98	1
TGM6	100.00	1
ARSA	100.00	1
PLA2G6	99.98	1
ANO10	99.92	1
ATG7	99.98	1
BTD	99.99	1
CACNA2D2	99.32	1
CLCN2	99.97	1
CTNNB1	99.98	1
EIF2B5	99.95	1
ITPR1	99.94	1
OPA1	99.87	1
RUBCN	99.94	1
SLC33A1	99.82	1
TFG	99.34	1
TSEN2	86.92	1
AIMP1	99.90	1
CYP2U1	97.44	1
EXOSC9	99.86	1
GRID2	99.98	1
MTTP	99.96	1
RFC1	99.44	1
SEPSECS	99.84	1
UCHL1	99.99	1
CCT5	99.97	1
FAT2	99.94	1
HEXB	99.91	1
PCDH12	100.00	1
REEP2	100.00	1
SIL1	99.99	1
SLC1A3	99.90	1
SLC25A46	99.93	1
SQSTM1	100.00	1
THG1L	99.95	1
ABHD16A	100.00	1
ARG1	99.98	1
ELOVL4	99.92	1
ELOVL5	99.95	1
FARS2	99.98	1
GRM1	99.87	1
HACE1	99.91	1
PEX7	99.87	1
RARS2	97.34	1
SNX14	99.73	1
SYNE1	99.96	1
TDP2	99.85	1
AP4M1	100.00	1
AP5Z1	99.94	1
COG5	99.92	1
IFRD1	99.96	1
PMPCB	99.98	1
RNF216	99.99	1
SAMD9L	99.98	1
VPS41	99.95	1
CA8	99.97	1
CYP7B1	99.87	1
DDHD2	99.74	1
ERLIN2	99.94	1
GPAA1	99.88	1
RNF170	99.94	1
TTPA	99.97	1
WASHC5	99.90	1
APTX	99.92	1
AUH	99.95	1
EXOSC3	99.98	1
GBA2	99.97	1
INPP5E	99.75	1
PMPCA	99.99	1
SETX	99.96	1
SPTAN1	99.97	1
UBAP1	99.96	1
VLDLR	99.93	1
ABCB7	98.62	1
ABCD1	99.78	1
AIFM1	99.43	1
AP1S2	97.43	1
ATP2B3	99.82	1
CASK	99.40	1
L1CAM	99.90	1
PLP1	99.93	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