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Gene Table



From the following article:

Clinical implications of genetic advances in Charcot–Marie–Tooth disease

Alexander M. Rossor, James M. Polke, Henry Houlden & Mary M. Reilly
Nature Reviews Neurology 9, 562-571 (October 2013)    doi:10.1038/nrneurol.2013.179

TYPE  (OMIM)              Gene                    Phenotype

Autosomal dominant CMT1

CMT1A (118220) 17p dup. (PMP22)
PMP22 point mutation
Classic CMT1
Classic CMT1; DSD; CHN (rarely recessive)
CMT1B (118200) MPZ CMT1; DSD; CHN; CMT2 (rarely recessive)
CMT1C (601098) LITAF Classic CMT1
CMT1D (607678) EGR2 Classic CMT1; DSD; CHN
CMT1F (607734) NEFL CMT2 but can have slow MCV in the CMT1 range (rarely recessive)
CMT1 plus (614434) FBLN5 Macular degeneration; cutis laxa; HMN; slow NCV
Hereditary neuropathy with liability to pressure palsies
HNPP (162500) 17p del. (PMP22)PMP22 point mutation Typical HNPP
Typical HNPP
Autosomal recessive CMT1
CMT4A (214400) GDAP1 CMT1 or CMT2, usually severe early onset
Vocal cord and diaphragmatic paralysis described
CMT4B1 (601382) MTMR2 Severe CMT1; facial; bulbar; focally folded myelin
CMT4B2 (604563) MTMR13 Severe CMT1; glaucoma; focally folded myelin
CMT4B3 SBF1 CMT1; focally folded myelin
CMT4C (601596) SH3TC2 Severe CMT1; scoliosis; cytoplasmic inclusions
CMT4D or HMSNL (601455) NDRG1 Severe CMT1; gypsy; deafness; tongue atrophy
CMT4E (605253) EGR2 CMT1; DSD; CHN phenotype
CMT4F (614895) PRX CMT1; predominantly sensory; focally folded myelin
CMT4G or HMSN Russe (605285) HK1 Severe early-onset CMT1; gypsy
CMT4H (609311) FGD4 (Frabin) Classic CMT1
CMT4J (611228) FIG4 CMT1; predominantly motor; progressive
CCFDN (604168) CTDP1 CMT1; gypsy; cataracts; dysmorphic features
Autosomal dominant CMT2
CMT2A (609260) MFN2 CMT2; progressive; optic atrophy (rarely recessive)
CMT2B or HSAN1B (600882) RAB7 CMT2 with sensory complications (ulcero mutilating)
CMT2C (606071) TRPV4 CMT2; vocal cord paralysis
CMT2D (601472) GARS CMT2 with predominant hand wasting
CMT2E (607684) NEFL CMT2 but can have NCV in the CMT1 range (rarely recessive)
CMT2F (606595) HSPB1 Motor-predominant CMT2
CMT2I (607677) MPZ Late-onset CMT2
CMT2J (607736) MPZ CMT2 with hearing loss and pupillary abnormalities
CMT2K (607831) GDAP1 Late-onset CMT2 (dominant); severe CMT2 (recessive)
CMT2L (608673) HSPB8 Motor-predominant CMT2
CMTDIB or CMT2M (606482) DNM2 Intermediate CMT or CMT2; cataracts; ophthalmoplegia; ptosis
CMT2N (613287) AARS Classic CMT2
CMT2P (614436) LRSAM1 Mild sensory-predominant CMT2 (dominant and recessive)
CMT2Q (615025) DHTKD1 CMT2
HMSNP (604484) TFG CMT2 with proximal involvement
CMT2 MARS Late-onset CMT2
SPG10 (604187) KIF5A CMT2; hereditary spastic paraplegia
CMT2 MT-ATP6 CMT2; pyramidal signs; relapsing
Autosomal recessive CMT2
CMT2B1 (605588) LMNA CMT2 rapid progression
CMT2B2 (605589) MED25 Classic CMT2
NMAN (137200) HINT1 Neuromyotonia and axonal neuropathy; motor predominant
AR-CMT2 TRIM2 Infantile-onset CMT2
X-linked CMT
CMTX1 (302800) GJB1 Males CMT1 (patchy NCV); females CMT2
CMTX4 or Cowchock syndrome (310490) AIFM1 CMT2; infantile onset; developmental delay; deafness; learning difficulties
CMTX5 (311070) PRPS1 CMT2; deafness; optic atrophy
Dominant intermediate CMT
CMTDIB or CMT2M (606482) DNM2 Intermediate CMT or CMT2; cataracts; ophthalmoplegia; ptosis
CMTDIC (608323) YARS Intermediate CMT
CMTDID (607791) MPZ Intermediate CMT
CMTDIE (614455) IFN2 Intermediate CMT; focal segmental glomerulosclerosis; end-stage renal failure
CMTD1F (615185) GNB4 Intermediate CMT
Recessive intermediate CMT
CMTRIA (608340) GDAP1 Intermediate CMT
CMTRIB (613641) KARS Intermediate CMT; learning difficulty; vestibular schwannoma
RI-CMT PLEKHG5 Intermediate CMT; SMA
Hereditary motor neuropathy (sometimes known as CMT Type 5)
HMN2A (158590) HSPB8 Classical HMN; dominant
HMN2B (608634) HSPB1 Classical HMN; dominant
HMN2C (613376) HSPB3 Classical HMN; dominant
HMN with pyramidal features or ALS4 (602433) SETX HMN with pyramidal signs; dominant
DSMA5 (614881) DNAJB2 (HSJ1) Classical HMN; recessive
HMN5A (600794) or SPG17 (270685) BSCL2 Predominant hand wasting; silver syndrome but can have sensory involvement as in CMT2D; dominant
HMN5A (600794) GARS Predominant hand wasting; dominant
HMN5B (614751) or SPG31 (610250) REEP1 Predominant hand wasting; pyramidal signs; dominant
HMN6 or SMARD1 (604320) IGHMBP2 Infantile onset; respiratory distress; recessive
HMN7A (158580) SLC5A7 Classical HMN; vocal cord palsy; dominant
HMN7B (607641) DCTN1 HMN; bulbar and facial weakness; dominant
SMAX3 (300489) ATP7A Classical HMN; X-linked
SMALED BICD2 Congenital; contractures; lower-limb predominant; pyramidal signs; dominant
SMALED (158600) DYNC1H1 Congenital; contractures; lower-limb predominant; pyramidal signs; cortical migration defects; learning difficulties; dominant
PNMHH (614369) MYH14 Typical HMN; distal myopathy; hoarseness; hearing loss; dominant
SPSMA (181405) TRPV4 HMN; scapular winging; vocal cord palsy; dominant
HMN AARS Typical HMN; dominant
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