Charcot-Marie-Tooth disease type 2H

Disease Export to PDF

Name:	Charcot-Marie-Tooth disease type 2H
Description:	Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
ORPHAcode:	101102
Synonyms:	AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT2H
XREF(s):	Orphanet OMIM MeSH ICD-10
Analyte(s):	GDAP1
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
• Neuropathy (gene panel)
• Peripheral neuropathy (gene panel)

Related Laboratories

• Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
• Centrum Medische Genetica - UZ Antwerpen
• Centrum Menselijke Erfelijkheid - KUL

Related Analytes

• GDAP1

Related Gene Panels

• Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	100.00	0	NM_001605.2
  ABCD1	100.00	0	NM_000033.3
  ABHD12	98.00	0	NM_001042472.2
  AGTPBP1	99.90	0	NM_001286715.1
  AIFM1	100.00	0	NM_004208.3
  APTX	99.00	0	NM_175073.2
  ARHGEF10	100.00	0	NM_014629.3
  ATL1	100.00	0	NM_015915.4
  ATL3	100.00	0	NM_015459.4
  ATP1A1	100.00	0	NM_000701.7
  ATP7A	100.00	0	NM_000052.6
  BAG3	100.00	0	NM_004281.3
  BICD2	100.00	0	NM_001003800.1
  BSCL2	100.00	0	NM_032667.6
  MTRFR	100.00	0	NM_152269.4
  CCT5	100.00	0	NM_012073.4
  CD59	100.00	0	NM_203330.2
  CNTNAP1	100.00	0	NM_003632.2
  COA7	100.00	0	NM_023077.2
  COX6A1	100.00	0	NM_004373.3
  CTDP1	98.90	0	NM_004715.4
  DCAF8	100.00	0	NM_015726.3
  DCTN1	100.00	0	NM_004082.4
  DGAT2	100.00	0	NM_032564.4
  DHTKD1	99.90	0	NM_018706.6
  DNAJB2	100.00	0	NM_001039550.1
  DNM2	100.00	0	NM_001005360.2
  DNMT1	99.50	0	NM_001130823.2
  DRP2	100.00	0	NM_001939.2
  DST	100.00	0	NM_001723.5
  DYNC1H1	100.00	0	NM_001376.4
  EGR2	100.00	0	NM_000399.4
  ELP1	100.00	0	NM_003640.4
  FBLN5	100.00	0	NM_006329.3
  FBXO38	100.00	0	NM_030793.4
  FGD4	100.00	0	NM_139241.3
  FIG4	100.00	0	NM_014845.5
  FLVCR1	100.00	0	NM_014053.3
  GAN	100.00	0	NM_022041.3
  GARS1	100.00	0	NM_002047.3
  GDAP1	100.00	0	NM_018972.3
  GJB1	100.00	0	NM_000166.5
  GJB3	100.00	0	NM_024009.2
  GLA	100.00	0	NM_000169.2
  GNB4	100.00	0	NM_021629.3
  HADHA	100.00	0	NM_000182.4
  HADHB	100.00	0	NM_000183.2
  HARS1	100.00	0	NM_002109.5
  HINT1	100.00	0	NM_005340.6
  HK1	100.00	0	NM_000188.2
  HOXD10	100.00	0	NM_002148.3
  HSPB1	99.00	0	NM_001540.4
  HSPB3	100.00	0	NM_006308.2
  HSPB8	100.00	0	NM_014365.2
  IARS2	100.00	0	NM_018060.3
  IFRD1	99.90	0	NM_001550.3
  IGHMBP2	100.00	0	NM_002180.2
  INF2	98.80	0	NM_022489.3
  ITPR3	99.50	0	NM_002224.3
  KARS1	100.00	0	NM_001130089.1
  KIF1A	99.90	0	NM_004321.7
  KIF1B	100.00	0	NM_015074.3
  KIF5A	100.00	0	NM_004984.3
  KLHL13	100.00	0	NM_033495.3
  LITAF	100.00	0	NM_004862.3
  LMNA	99.90	0	NM_170707.3
  LRSAM1	100.00	0	NM_138361.5
  MARS1	100.00	0	NM_004990.3
  MCM3AP	100.00	0	NM_003906.4
  MED25	100.00	0	NM_030973.3
  MFN2	100.00	0	NM_014874.3
  MME	100.00	0	NM_007289.3
  MORC2	100.00	0	NM_001303256.2
  MPV17	100.00	0	NM_002437.4
  MPZ	100.00	0	NM_000530.7
  MTMR2	100.00	0	NM_016156.5
  MYH7B	99.80	0	NM_024729.3
  NAGLU	99.70	0	NM_000263.3
  NDRG1	100.00	0	NM_006096.3
  NEFH	99.50	0	NM_021076.3
  NEFL	99.60	0	NM_006158.4
  NGF	100.00	0	NM_002506.2
  NTRK1	100.00	0	NM_001012331.1
  MED12	100.00	0	NM_015560.2
  OPA3	100.00	0	NM_025136.3
  PDK3	100.00	0	NM_001142386.2
  PDXK	100.00	0	NM_003681.4
  PEX1	100.00	0	NM_000466.2
  PEX7	100.00	0	NM_000288.3
  PHYH	100.00	0	NM_006214.3
  PLEKHG5	99.80	0	NM_020631.4
  PMP2	100.00	0	NM_002677.4
  PMP22	100.00	0	NM_000304.3
  PNKP	99.80	0	NM_007254.3
  POLG	100.00	0	NM_002693.2
  PRDM12	90.30	0	NM_021619.2
  PRNP	100.00	0	NM_000311.4
  PRPS1	100.00	0	NM_002764.3
  PRX	100.00	0	NM_181882.2
  RAB7A	100.00	0	NM_004637.5
  REEP1	100.00	0	NM_022912.2
  RETREG1	99.40	0	NM_001034850.2
  SBF1	99.70	0	NM_002972.3
  SBF2	100.00	0	NM_030962.3
  SCN10A	100.00	0	NM_006514.3
  SCN11A	99.80	0	NM_014139.2
  SCN9A	100.00	0	NM_002977.3
  SCO2	100.00	0	NM_005138.2
  SCP2	100.00	0	NM_002979.4
  SEPTIN9	99.20	0	NM_006640.4
  SETX	100.00	0	NM_015046.6
  SGPL1	100.00	0	NM_003901.3
  SH3BP4	100.00	0	NM_014521.2
  SH3TC2	100.00	0	NM_024577.3
  SIGMAR1	100.00	0	NM_005866.3
  SLC12A6	100.00	0	NM_133647.1
  SLC25A46	100.00	0	NM_138773.3
  SLC5A7	100.00	0	NM_021815.4
  SORD	91.20	0	NM_003104.5
  SOX10	100.00	0	NM_006941.3
  SPG11	100.00	0	NM_025137.3
  SPTLC1	100.00	0	NM_006415.3
  SPTLC2	100.00	0	NM_004863.3
  SURF1	99.00	0	NM_003172.3
  TDP1	100.00	0	NM_018319.3
  TECPR2	100.00	0	NM_014844.4
  TFG	100.00	0	NM_006070.5
  TRIM2	100.00	0	NM_001130067.1
  TRPA1	100.00	0	NM_007332.2
  TRPV4	99.90	0	NM_021625.4
  TTR	100.00	0	NM_000371.3
  TUBB3	100.00	0	NM_006086.3
  TWNK	100.00	0	NM_021830.4
  TYMP	100.00	0	NM_001953.4
  VCP	99.90	0	NM_007126.4
  VRK1	100.00	0	NM_003384.2
  WARS1	99.80	0	NM_004184.3
  WNK1	99.80	0	NM_018979.3
  YARS1	100.00	0	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

• Neuropathy (genepanel) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	99.94	1
  ABCA1	99.92	1
  ABHD12	99.11	1
  ADPRS	100.00	1
  AGTPBP1	99.40	1
  AIFM1	99.43	1
  ARHGEF10	100.00	1
  ARSA	100.00	1
  ATL1	99.95	1
  ATL3	99.86	1
  ATM	99.83	1
  ATP1A1	99.94	1
  ATP7A	99.35	1
  B4GALNT1	99.95	1
  BAG3	100.00	1
  BICD2	100.00	1
  BSCL2	100.00	1
  CADM3	99.94	1
  CD59	99.97	1
  CFAP276	99.73	1
  CHCHD10	97.06	1
  CLTCL1	99.98	1
  CNTNAP1	99.80	1
  COA7	100.00	1
  COX20	99.40	1
  COX6A1	99.99	1
  CTDP1	98.02	1
  CTNNB1	99.98	1
  CYP27A1	99.96	1
  DARS2	99.86	1
  DCAF8	99.98	1
  DCTN1	99.95	1
  DGAT2	99.99	1
  DGUOK	99.76	1
  DHTKD1	99.88	1
  DNAJB2	100.00	1
  DNAJC3	99.58	1
  DNM2	99.96	1
  DNMT1	99.88	1
  DRP2	99.45	1
  DST	99.92	1
  DYNC1H1	99.97	1
  EGR2	100.00	1
  ELP1	99.96	1
  ETFDH	99.76	1
  FBLN5	92.79	1
  FBXO38	99.93	1
  FGD4	99.89	1
  FIG4	99.94	1
  FLVCR1	99.93	1
  FXN	97.92	1
  GALC	99.88	1
  GAN	99.84	1
  GARS1	99.86	1
  GBA2	99.97	1
  GBE1	99.84	1
  GBF1	99.95	1
  GDAP1	99.93	1
  GJB1	99.99	1
  GJB3	100.00	1
  GJC2	96.12	1
  GLA	99.64	1
  GNB4	99.95	1
  GSN	97.83	1
  HADHA	99.96	1
  HADHB	99.97	1
  HARS1	99.99	1
  HINT1	99.96	1
  HK1	96.86	1
  HNRNPA1	100.00	1
  HOXD10	100.00	1
  HSPB1	99.83	1
  HSPB3	100.00	1
  HSPB8	99.90	1
  IARS2	99.96	1
  IFRD1	99.96	1
  IGHMBP2	99.99	1
  INF2	97.15	1
  ITPR3	99.88	1
  JAG1	99.92	1
  KIF1A	99.96	1
  KIF5A	99.93	1
  LITAF	100.00	1
  LMNA	99.98	1
  LRSAM1	99.97	1
  LYST	99.92	1
  MCM3AP	99.96	1
  MFN2	99.96	1
  MMACHC	99.99	1
  MME	97.69	1
  MORC2	99.98	1
  MPV17	100.00	1
  MPZ	99.97	1
  MTMR2	99.98	1
  MTRFR	99.85	1
  MYH14	99.79	1
  NAGA	99.99	1
  NAGLU	98.00	1
  NARS1	99.74	1
  NDRG1	100.00	1
  NEFH	98.77	1
  NEFL	99.99	1
  NGF	99.99	1
  NTRK1	99.67	1
  PCYT2	97.60	1
  PDK3	98.86	1
  PEX7	99.87	1
  PHYH	99.65	1
  PIEZO2	99.88	1
  PLD3	99.99	1
  PLEKHG5	99.66	1
  PLP1	99.93	1
  PMM2	99.94	1
  PMP2	99.95	1
  PMP22	100.00	1
  PNKP	100.00	1
  PNPLA6	99.88	1
  POLG	99.98	1
  POLR3B	99.88	1
  PPOX	99.94	1
  PRDM12	99.60	1
  PRKCG	99.90	1
  PRNP	100.00	1
  PRPS1	99.79	1
  PRX	99.94	1
  PTEN	99.15	1
  PTPN11	99.91	1
  PTRH2	99.97	1
  RAB7A	99.94	1
  REEP1	99.99	1
  RETREG1	99.92	1
  RFC1	99.44	1
  SACS	99.98	1
  SBF1	99.97	1
  SBF2	99.92	1
  SCARB2	99.94	1
  SCN10A	99.97	1
  SCN11A	99.77	1
  SCN9A	99.96	1
  SCO2	100.00	1
  SCYL1	99.64	1
  SEPTIN9	99.94	1
  SETX	99.96	1
  SH3TC2	99.98	1
  SIGMAR1	99.99	1
  SLC12A6	99.88	1
  SLC25A19	99.99	1
  SLC25A46	99.93	1
  SLC52A2	100.00	1
  SLC52A3	100.00	1
  SLC5A7	99.97	1
  SORD	92.86	1
  SOX10	100.00	1
  SPAST	99.83	1
  SPG11	99.94	1
  SPG7	99.99	1
  SPTAN1	99.97	1
  SPTBN4	99.19	1
  SPTLC1	99.98	1
  SPTLC2	99.94	1
  SPTLC3	99.94	1
  SURF1	97.64	1
  SYT2	99.89	1
  TBCE	99.69	1
  TBCK	99.76	1
  TECPR2	99.90	1
  TFG	99.34	1
  TRIM2	99.99	1
  TRPV4	99.96	1
  TTPA	99.97	1
  TTR	100.00	1
  TUBB3	100.00	1
  TWNK	100.00	1
  UCHL1	99.99	1
  VAPB	99.94	1
  VCP	99.92	1
  VPS13A	99.60	1
  VRK1	99.94	1
  VWA1	91.35	1
  WARS1	99.79	1
  WNK1	99.94	1
  XRCC1	99.94	1
  YARS1	99.96	1
  ZFHX2	99.98	1
  ZFYVE26	99.96	1