Charcot-Marie-Tooth disease type 1A | Belgian Genetic Tests database

Disease Export to PDF
Name:	Charcot-Marie-Tooth disease type 1A
ORPHAcode:	101081
Synonyms:	CMT1A Microduplication 17p12
XREF(s):	Orphanet ICD-10 OMIM
Analyte(s):	PMP22
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

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Inherited Peripheral Neuropathies gene panel (139 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	NM_001605.2
ABCD1	100.00	NM_000033.3
ABHD12	98.00	NM_001042472.2
AGTPBP1	99.90	NM_001286715.1
AIFM1	100.00	NM_004208.3
APTX	99.00	NM_175073.2
ARHGEF10	100.00	NM_014629.3
ATL1	100.00	NM_015915.4
ATL3	100.00	NM_015459.4
ATP1A1	100.00	NM_000701.7
ATP7A	100.00	NM_000052.6
BAG3	100.00	NM_004281.3
BICD2	100.00	NM_001003800.1
BSCL2	100.00	NM_032667.6
MTRFR	100.00	NM_152269.4
CCT5	100.00	NM_012073.4
CD59	100.00	NM_203330.2
CNTNAP1	100.00	NM_003632.2
COA7	100.00	NM_023077.2
COX6A1	100.00	NM_004373.3
CTDP1	98.90	NM_004715.4
DCAF8	100.00	NM_015726.3
DCTN1	100.00	NM_004082.4
DGAT2	100.00	NM_032564.4
DHTKD1	99.90	NM_018706.6
DNAJB2	100.00	NM_001039550.1
DNM2	100.00	NM_001005360.2
DNMT1	99.50	NM_001130823.2
DRP2	100.00	NM_001939.2
DST	100.00	NM_001723.5
DYNC1H1	100.00	NM_001376.4
EGR2	100.00	NM_000399.4
ELP1	100.00	NM_003640.4
FBLN5	100.00	NM_006329.3
FBXO38	100.00	NM_030793.4
FGD4	100.00	NM_139241.3
FIG4	100.00	NM_014845.5
FLVCR1	100.00	NM_014053.3
GAN	100.00	NM_022041.3
GARS1	100.00	NM_002047.3
GDAP1	100.00	NM_018972.3
GJB1	100.00	NM_000166.5
GJB3	100.00	NM_024009.2
GLA	100.00	NM_000169.2
GNB4	100.00	NM_021629.3
HADHA	100.00	NM_000182.4
HADHB	100.00	NM_000183.2
HARS1	100.00	NM_002109.5
HINT1	100.00	NM_005340.6
HK1	100.00	NM_000188.2
HOXD10	100.00	NM_002148.3
HSPB1	99.00	NM_001540.4
HSPB3	100.00	NM_006308.2
HSPB8	100.00	NM_014365.2
IARS2	100.00	NM_018060.3
IFRD1	99.90	NM_001550.3
IGHMBP2	100.00	NM_002180.2
INF2	98.80	NM_022489.3
ITPR3	99.50	NM_002224.3
KARS1	100.00	NM_001130089.1
KIF1A	99.90	NM_004321.7
KIF1B	100.00	NM_015074.3
KIF5A	100.00	NM_004984.3
KLHL13	100.00	NM_033495.3
LITAF	100.00	NM_004862.3
LMNA	99.90	NM_170707.3
LRSAM1	100.00	NM_138361.5
MARS1	100.00	NM_004990.3
MCM3AP	100.00	NM_003906.4
MED25	100.00	NM_030973.3
MFN2	100.00	NM_014874.3
MME	100.00	NM_007289.3
MORC2	100.00	NM_001303256.2
MPV17	100.00	NM_002437.4
MPZ	100.00	NM_000530.7
MTMR2	100.00	NM_016156.5
MYH7B	99.80	NM_024729.3
NAGLU	99.70	NM_000263.3
NDRG1	100.00	NM_006096.3
NEFH	99.50	NM_021076.3
NEFL	99.60	NM_006158.4
NGF	100.00	NM_002506.2
NTRK1	100.00	NM_001012331.1
MED12	100.00	NM_015560.2
OPA3	100.00	NM_025136.3
PDK3	100.00	NM_001142386.2
PDXK	100.00	NM_003681.4
PEX1	100.00	NM_000466.2
PEX7	100.00	NM_000288.3
PHYH	100.00	NM_006214.3
PLEKHG5	99.80	NM_020631.4
PMP2	100.00	NM_002677.4
PMP22	100.00	NM_000304.3
PNKP	99.80	NM_007254.3
POLG	100.00	NM_002693.2
PRDM12	90.30	NM_021619.2
PRNP	100.00	NM_000311.4
PRPS1	100.00	NM_002764.3
PRX	100.00	NM_181882.2
RAB7A	100.00	NM_004637.5
REEP1	100.00	NM_022912.2
RETREG1	99.40	NM_001034850.2
SBF1	99.70	NM_002972.3
SBF2	100.00	NM_030962.3
SCN10A	100.00	NM_006514.3
SCN11A	99.80	NM_014139.2
SCN9A	100.00	NM_002977.3
SCO2	100.00	NM_005138.2
SCP2	100.00	NM_002979.4
SEPTIN9	99.20	NM_006640.4
SETX	100.00	NM_015046.6
SGPL1	100.00	NM_003901.3
SH3BP4	100.00	NM_014521.2
SH3TC2	100.00	NM_024577.3
SIGMAR1	100.00	NM_005866.3
SLC12A6	100.00	NM_133647.1
SLC25A46	100.00	NM_138773.3
SLC5A7	100.00	NM_021815.4
SORD	91.20	NM_003104.5
SOX10	100.00	NM_006941.3
SPG11	100.00	NM_025137.3
SPTLC1	100.00	NM_006415.3
SPTLC2	100.00	NM_004863.3
SURF1	99.00	NM_003172.3
TDP1	100.00	NM_018319.3
TECPR2	100.00	NM_014844.4
TFG	100.00	NM_006070.5
TRIM2	100.00	NM_001130067.1
TRPA1	100.00	NM_007332.2
TRPV4	99.90	NM_021625.4
TTR	100.00	NM_000371.3
TUBB3	100.00	NM_006086.3
TWNK	100.00	NM_021830.4
TYMP	100.00	NM_001953.4
VCP	99.90	NM_007126.4
VRK1	100.00	NM_003384.2
WARS1	99.80	NM_004184.3
WNK1	99.80	NM_018979.3
YARS1	100.00	NM_003680.3

Neuropathy (148 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	1	NM_001605.3
ABHD12	100.00	1	NM_001042472.3
AIFM1	100.00	1	NM_004208.4
APTX	100.00	1	NM_001195248.2
ARHGEF10	100.00	1	NM_014629.4
ATL1	100.00	1	NM_015915.5
ATP1A1	100.00	1	NM_000701.8
ATP7A	100.00	1	NM_000052.7
BICD2	100.00	1	NM_001003800.2
BSCL2	100.00	1	NM_001122955.3
MTRFR	100.00	1	NM_152269.5
COX6A1	100.00	1	NM_004373.4
CTDP1	100.00	1	NM_004715.5
DCTN1	100.00	1	NM_004082.4
DHTKD1	100.00	1	NM_018706.7
DNAJB2	100.00	1	NM_006736.6
DNM2	100.00	1	NM_001005361.3
DNMT1	99.93	1	NM_001130823.3
DST	100.00	1	NM_001144770.2
DYNC1H1	100.00	1	NM_001376.5
EGR2	100.00	1	NM_000399.5
ELP1	100.00	1	NM_003640.5
FBLN5	100.00	1	NM_006329.3
FBXO38	100.00	1	NM_205836.3
FGD4	100.00	1	NM_001304480.1
FIG4	100.00	1	NM_014845.6
GAN	100.00	1	NM_022041.3
GARS1	100.00	1	NM_002047.4
GDAP1	100.00	1	NM_018972.4
GJB1	100.00	1	NM_000166.6
GJB3	100.00	1	NM_024009.3
GNB4	100.00	1	NM_021629.4
HARS1	100.00	1	NM_002109.6
HINT1	100.00	1	NM_005340.7
HK1	100.00	1	NM_001358263.1
HOXD10	100.00	1	NM_002148.4
HSPB1	100.00	1	NM_001540.5
HSPB3	100.00	1	NM_006308.3
HSPB8	100.00	1	NM_014365.3
IFRD1	100.00	1	NM_001007245.2
IGHMBP2	100.00	1	NM_002180.3
INF2	99.00	1	NM_022489.4
KARS1	100.00	1	NM_001130089.1
KIF1A	100.00	1	NM_001244008.1
KIF1B	100.00	1	NM_015074.3
KIF5A	100.00	1	NM_004984.4
LITAF	100.00	1	NM_001136472.1
LMNA	100.00	1	NM_170707.4
LRSAM1	100.00	1	NM_001005373.3
MARS1	100.00	1	NM_004990.4
MED25	100.00	1	NM_030973.3
MFN2	100.00	1	NM_014874.4
MME	100.00	1	NM_007289.4
MORC2	100.00	1	NM_001303256.3
MPZ	100.00	1	NM_000530.8
MTMR2	100.00	1	NM_016156.6
MYH14	100.00	1	NM_001145809.2
NAGLU	100.00	1	NM_000263.4
NDRG1	100.00	1	NM_006096.4
NEFH	100.00	1	NM_021076.4
NEFL	100.00	1	NM_006158.5
NGF	100.00	1	NM_002506.3
NTRK1	100.00	1	NM_002529.3
PDK3	100.00	1	NM_001142386.3
PEX1	100.00	1	NM_000466.3
PEX7	100.00	1	NM_000288.4
PHYH	100.00	1	NM_006214.4
PLEKHG5	100.00	1	NM_001265592.1
PMP22	100.00	1	NM_000304.4
POLG	100.00	1	NM_001126131.2
PRDM12	98.36	1	NM_021619.3
PRPS1	100.00	1	NM_002764.4
PRX	100.00	1	NM_181882.3
RAB7A	100.00	1	NM_004637.6
REEP1	100.00	1	NM_001371279.1
RETREG1	100.00	1	NM_001034850.2
SBF1	100.00	1	NM_002972.4
SBF2	100.00	1	NM_030962.3
SCN11A	100.00	1	NM_001349253.2
SCN9A	100.00	1	NM_001365536.1
SCO2	100.00	1	NM_005138.3
SETX	100.00	1	NM_015046.7
SH3TC2	100.00	1	NM_024577.4
SLC12A6	100.00	1	NM_001365088.1
SLC5A7	100.00	1	NM_021815.5
SOX10	100.00	1	NM_006941.4
SPG11	100.00	1	NM_025137.4
SPTLC1	100.00	1	NM_006415.4
SPTLC2	100.00	1	NM_004863.3
TDP1	100.00	1	NM_018319.4
TECPR2	100.00	1	NM_014844.5
TFG	100.00	1	NM_006070.6
TRIM2	100.00	1	NM_015271.5
TRPV4	100.00	1	NM_021625.5
TTR	100.00	1	NM_000371.4
TUBB3	100.00	1	NM_006086.4
TYMP	100.00	1	NM_001257989.1
VCP	100.00	1	NM_007126.5
WNK1	100.00	1	NM_018979.4
YARS1	100.00	1	NM_003680.3
AAAS	100.00	1	NM_015665.6
ALS2	100.00	1	NM_020919.4
ANG	100.00	1	NM_001145.4
ANXA11	100.00	1	NM_145868.2
ATL3	100.00	1	NM_015459.5
CNTNAP1	100.00	1	NM_003632.3
COA8	100.00	1	NM_001370595.1
COL4A1	100.00	1	NM_001845.6
DCAF8	100.00	1	NM_015726.4
DCX	100.00	1	NM_001195553.2
ERBB4	100.00	1	NM_005235.3
FUS	100.00	1	NM_004960.4
GBF1	100.00	1	NM_004193.3
GCH1	100.00	1	NM_000161.3
GLA	100.00	1	NM_000169.3
HTRA1	100.00	1	NM_002775.5
KLC2	100.00	1	NM_001134775.1
MATR3	100.00	1	NM_018834.6
MCM3AP	100.00	1	NM_003906.5
MPV17	100.00	1	NM_002437.5
NEK1	100.00	1	NM_001199397.3
NFASC	100.00	1	NM_001005388.2
OPTN	100.00	1	NM_001008212.2
PDXK	100.00	1	NM_003681.5
PFN1	100.00	1	NM_005022.4
PMP2	100.00	1	NM_002677.5
PNKP	100.00	1	NM_007254.4
PRPH	100.00	1	NM_006262.4
PTRH2	100.00	1	NM_016077.5
SCN10A	100.00	1	NM_006514.3
SEPTIN9	100.00	1	NM_001113491.2
SGPL1	100.00	1	NM_003901.4
SIGMAR1	100.00	1	NM_005866.4
SLC25A46	100.00	1	NM_138773.4
SMN1	6.96	1	NM_000344.3
SOD1	100.00	1	NM_000454.5
SORD	94.98	1	NM_003104.6
SQSTM1	100.00	1	NM_003900.5
SURF1	100.00	1	NM_003172.4
SYT2	100.00	1	NM_177402.5
TARDBP	100.00	1	NM_007375.4
TIA1	100.00	1	NM_022173.4
TRPA1	100.00	1	NM_007332.3
TUBA1A	100.00	1	NM_006009.4
TUBA4A	100.00	1	NM_006000.3
UBQLN2	100.00	1	NM_013444.3
VAPB	100.00	1	NM_004738.5
WARS1	100.00	1	NM_004184.4