GeneTable

1. Muscular dystrophies	5. Other myopathies	9. Metabolic myopathies	13. Hereditary ataxias
2. Congenital muscular dystrophies	6. Myotonic syndromes	10. Hereditary cardiomyopathies	14. Hereditary motor and sensory neuropathies
3. Congenital myopathies	7. Ion channel muscle diseases	11. Congenital myasthenic syndromes	15. Hereditary paraplegias
4. Distal myopathies	8. Malignant hyperthermia	12. Spinal muscular atrophies motoneuron diseases	16. Other neuromuscular disorders

14. HEREDITARY MOTOR AND SENSORY NEUROPATHIES (HMSN) (See references) - (download list of genes)

A. Charcot-Marie-Tooth neuropathy, type 1 (demyelinating)

Autosomal dominant (AD-CMT1)

Grey lines background indicate newly added items

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Charcot-Marie-Tooth disease, type 1A - (AD)

14.1

PMP22 (17p12-p11.2)

Peripheral myelin protein 22

	* Neuropathy, recurrent, with pressure palsies - HNPP
	* Dejerine-Sottas Syndrome - DSSB
	* Charcot-Marie-Tooth disease, type 1A - CMT1A
	* Charcot-Marie-Tooth disease, type 1E - CMT1E

Charcot-Marie-Tooth disease, type 1B - (AD)

14.2

MPZ (1q22)

Myelin protein zero

	* Charcot-Marie-Tooth disease, type 2I - CMT2I
	* Charcot-Marie-Tooth disease, type 2J - CMT2J
	* Charcot-Marie-Tooth disease, type 1B - CMT1B
	* Neuropathy, congenital hypomyelinating, 2 - CHN2
	* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
	* Dejerine-Sottas syndrome - DSSA

Charcot-Marie-Tooth disease, type 1C - (AD)

14.3

11713717

12525712

LITAF (16p13.3-p12)

Lipopolysaccharide-induced TNF factor

* Hereditary motor and sensory, type 1C - CMT1C

Charcot-Marie-Tooth disease, type 1D - (AD)

14.4

9537424

EGR2 (10q21.1)

Early growth response 2 protein

	* Charcot-Marie-Tooth disease, type 1D - CMT1D
	* Charcot-Marie-Tooth neuropathy Type 4E - CMT4E
	* Dejerine-Sottas syndrome - DSS
	* Neuropathy, congenital hypomyelinating, 1 - CHN1

Charcot-Marie-Tooth disease, type 1E, with deafness - (AD)

14.5

10330345

11835375

PMP22 (17p12-p11.2)

Peripheral myelin protein 22

	* Neuropathy, recurrent, with pressure palsies - HNPP
	* Dejerine-Sottas Syndrome - DSSB
	* Charcot-Marie-Tooth disease, type 1A - CMT1A
	* Charcot-Marie-Tooth disease, type 1E - CMT1E

Hereditary Neuropathy with Liability to Pressure Palsies - (AD)

14.6

8012388

8112739

8422677

PMP22 (17p12-p11.2)

Peripheral myelin protein 22

	* Neuropathy, recurrent, with pressure palsies - HNPP
	* Dejerine-Sottas Syndrome - DSSB
	* Charcot-Marie-Tooth disease, type 1A - CMT1A
	* Charcot-Marie-Tooth disease, type 1E - CMT1E

Charcot-Marie-Tooth neuropathy Type 1F - (AD)

14.7

12566280

NEFL (8p21)

Neurofilament, light polypeptide 68kDa

	* Charcot-Marie-Tooth disease, type 1F - CMT1F
	* Charcot-Marie-Tooth disease, type 2E - CMT2E
	* Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G

Charcot-Marie Tooth disease, demyelinating type 1G - (AD)

14.8

26828946

PMP2 (8q21.13)

peripheral myelin protein-2

* Charcot-Marie Tooth disease, demyelinating type 1G - CMT1G

Charcot-Marie-Tooth neuropathy - (AD)

14.9

33417887

34666706

POLR3B (12q23.3)

Polymerase III, RNA, Subunit B

* Charcot-Marie-Tooth neuropathy - CMT1I

CMT with Congenital vertical talus - (AD)

14.10

15146389

HOXD10 (2q31.1)

Homeobox D10

* Charcot-Marie-Tooth disease, congenital, vertical talus

Slowed nerve conduction velocity - (AD)

14.11

10520946

14508709

9678704

ARHGEF10 (8p23)

Rho guanine nucleotide exchange factor 10

* Slowed nerve conduction velocity, autosomal dominant - NCV

Neuropathy, hereditary, with or without age-related macular degeneration - (AD)

14.12

21576112

FBLN5 (14q32.12)

Fibulin 5 (extra-cellular matrix)

* Charcot-Marie-Tooth neuropathy, with fibulin defect

Charcot-Marie-Tooth neuropathy - (AD)

14.13

32949214

ITPR3 (6q21.31)

Inositol 1,4,5-triphosphate receptor, type 3

* Charcot-Marie-Tooth neuropathy

Charcot-Marie-Tooth disease, type 1, related to ATP1A1 - (AD)

14.14

36738336

ATP1A1 (1p13.1)

ATPase, Na+/K+ transporting, alpha-1 polypeptide

	* Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD
	* Charcot-Marie-Tooth disease, type 1, related to ATP1A1

Dominant intermediate (CMTDI)

Grey lines background indicate newly added items

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Charcot-Marie-Tooth disease, dominant intermediate A - (AD)

14.15

11533914

26828946

32937143

GBF1 (10q24.32)

Golgi-specific brefeldin-A resistance factor 1

	* Distal hereditary motor neuropathies
	* Charcot-Marie-Tooth disease, dominant intermediate A - CMT2GG

Charcot-Marie-Tooth disease, dominant intermediate B - (AD)

14.16

15731758

DNM2 (19p13.2)

Dynamin 2

	* Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB
	* Myopathy centronuclear, 1 - CNM1
	* Lethal Congenital Contracture Syndrome 5 - LCCS5

Charcot-Marie-Tooth disease, dominant intermediate C - (AD)

14.17

14606043

16429158

YARS (1p35.1)

Tyrosyl-tRNA synthetase

* Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC

Charcot-Marie-Tooth disease, dominant intermediate D - (AD)

14.18

10406984

MPZ (1q22)

Myelin protein zero

	* Charcot-Marie-Tooth disease, type 2I - CMT2I
	* Charcot-Marie-Tooth disease, type 2J - CMT2J
	* Charcot-Marie-Tooth disease, type 1B - CMT1B
	* Neuropathy, congenital hypomyelinating, 2 - CHN2
	* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
	* Dejerine-Sottas syndrome - DSSA

Charcot-Marie-Tooth disease, dominant intermediate E - (AD)

14.19

22187985

INF2 (14q32-33)

Inverted formin 2

* Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE

Charcot-Marie-Tooth disease, dominant intermediate F - (AD)

14.20

23434117

GNB4 (3q28-q29)

Guanine nucleotidebinding protein, beta-4

* Charcot-Marie-Tooth neuropathy Type F - CMTD1F

Charcot-Marie-Tooth disease, dominant intermediate G - (AD)

14.21

26645395

NEFL (8p21)

Neurofilament, light polypeptide 68kDa

	* Charcot-Marie-Tooth disease, type 1F - CMT1F
	* Charcot-Marie-Tooth disease, type 2E - CMT2E
	* Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G

Charcot-Marie Tooth disease, intermediate - (AD)

14.22

31199454

CFAP276 (1p21.2-p13.3)

Cilia- and flagella-associated protein 276

* Charcot-Marie Tooth disease, intermediate

Charcot-Marie-Tooth disease, recessive intermediate, A - (AR)

14.23

12499475

GDAP1 (8q13-q21)

Ganglioside-induced differentiation-associated protein 1

	* Charcot-Marie-Tooth disease, type 4A - CMT4A
	* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A
	* Charcot-Marie-Tooth disease, type 2K - CMT2K
	* Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA

Charcot-Marie-Tooth disease, recessive intermediate, B - (AR)

14.24

20920668

KARS (16q23.1)

Lysyl-tRNA synthetase

* Axonal neuropathy recessive - CMTRIB

Charcot-Marie-Tooth disease, recessive intermediate, C - (AR)

14.25

23777631

23844677

PLEKHG5 (1p36)

Pleckstrin homology domain containing, family G (with RhoGef domain) member 5

	* spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4
	* Axonal neuropathy intermediate recessive C - CMTRIC

Charcot-Marie-Tooth disease, recessive intermediate, D - (AR)

14.26

25152455

COX6A1 (12q24.31)

Cytochrome c oxidase subunit VIa polypeptide 1(M)

* CMT recessive intermediate D - CMTRID

Charcot-Marie-Tooth disease, intermediate, related to SARS1 - (AD)

14.27

36088542

SARS1 (1p13.3)

Seryl-tRNA synthetase 1

* Charcot-Marie-Tooth disease, intermediate, related to SARS1

Autosomal recessive (AR-CMT1 or CMT4)

Grey lines background indicate newly added items

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Charcot-Marie-Tooth disease Type 4A - (AR)

14.28

11743579

8268915

GDAP1 (8q13-q21)

Ganglioside-induced differentiation-associated protein 1

	* Charcot-Marie-Tooth disease, type 4A - CMT4A
	* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A
	* Charcot-Marie-Tooth disease, type 2K - CMT2K
	* Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA

Charcot-Marie-Tooth disease Type 4B1 - (AR)

14.29

10802647

8817346

MTMR2 (11q22)

Myotubularin-related protein 2

* Charcot-Marie-Tooth disease, type 4B1 - CMT4B1

Charcot-Marie-Tooth disease Type 4B2 - (AR)

14.30

12554688

12687498

23749797

SBF2 (11p15.4)

SET binding factor 2

* charcot-marie-tooth disease, type 4b2 - CMT4B2

Charcot-Marie-Tooth disease Type 4B3 - (AR)

14.31

23749797

SBF1 (22q13.33)

SET binding factor 1

* Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3

Charcot-Marie-Tooth disease, Type 4C - (AR)

14.32

8894708

SH3TC2 (5q32)

KIAA1985 protein

* Charcot-Marie-Tooth neuropathy Type 4F - CMT4C

Charcot-Marie-Tooth disease, Type 4D (HMSN Lom, with deafness) - (AR)

14.33

10831399

8841199

NDRG1 (8q24.3)

N-myc downstream regulated gene 1

	* Charcot-Marie-Tooth disease, type 4D - CMT4D
	* Neuropathy, hereditary motor and sensory, lom type - HMSNL
	* Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL

Neuropathy, congenital hypomyelinating, 1 - ( AR)

14.34

9537424

EGR2 (10q21.1)

Early growth response 2 protein

	* Charcot-Marie-Tooth disease, type 1D - CMT1D
	* Charcot-Marie-Tooth neuropathy Type 4E - CMT4E
	* Dejerine-Sottas syndrome - DSS
	* Neuropathy, congenital hypomyelinating, 1 - CHN1

Neuropathy, congenital hypomyelinating, 2 - ( AR)

14.35

8816708

MPZ (1q22)

Myelin protein zero

	* Charcot-Marie-Tooth disease, type 2I - CMT2I
	* Charcot-Marie-Tooth disease, type 2J - CMT2J
	* Charcot-Marie-Tooth disease, type 1B - CMT1B
	* Neuropathy, congenital hypomyelinating, 2 - CHN2
	* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
	* Dejerine-Sottas syndrome - DSSA

Charcot-Marie-Tooth disease, Type 4F - (AR)

14.36

10848494

11133365

PRX (19q13)

Periaxin

	* Charcot-Marie-Tooth disease, type 4F - CMT4F
	* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F

Charcot-Marie-Tooth disease, Type 4G (type Russe) - (AR)

14.37

10915613

22978647

HK1 (10q22.1)

Hexokinase 1(M)

* Charcot-Marie-Tooth neuropathy Type 4G - CMT4G

Charcot-Marie-Tooth disease, Type 4H - (AR)

14.38

17564959

17564972

FGD4 (12p11.21)

Actin-filament binding protein Frabin

* Charcot-Marie-Tooth neuropathy Type 4H - CMT4H

Charcot-Marie-Tooth disease, Type 4J - (AR)

14.39

17572665

FIG4 (6q21)

Sac domain-containing inositol phosphatase 3

	* charcot-marie-tooth disease, type 4j - CMT4J
	* Amyotrophic lateral sclerosis 11 - ALS11

Charcot-Marie-Tooth disease, Type 4K - (AR)

14.40

24027061

SURF1 (9q34.2)

Surfeit 1(M)

* Charcot-Marie-Tooth neuropathy Type 4K - CMT4K

Charcot-Marie Tooth disease - (AR)

14.41

31011849

AHNAK2 (14q32)

Ahnak nucleoprotein 2

* Charcot-Marie Tooth disease

Charcot-Marie Tooth disease related to CNTNAP1 - (AR)

14.42

31397905

CNTNAP1 (17q21.2)

Contactin-Associated Protein 1

	* Lethal congenital contracture syndrome 7 - LCCS7
	* Charcot-Marie Tooth disease related to CNTNAP1

X-linked CMT1

Grey lines background indicate newly added items

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Charcot-Marie-Tooth neuropathy X-linked 1 - (XD)

14.43

7477983

8266101

GJB1 (Xq13.1)

Gap junction protein, beta 1, 32kDa (connexin 32)

* Charcot-Marie-Tooth neuropathy, X-linked - CMTX1

Charcot-Marie-Tooth neuropathy X-linked 2 - (XR)

14.44

1557086

? - (Xp22.2)

* charcot-marie-tooth disease, x-linked recessive, 2 - CMTX2

Charcot-Marie-Tooth neuropathy X-linked 3 - (XR)

14.45

1557086

17159110

27438001

78 kb Chro8 insertion (Xq26)

78 kb inter-chromosomal insertion (from chro 8q24.3)

* charcot-marie-tooth disease, x-linked recessive, 3 - CMTX3

Charcot-Marie-Tooth neuropathy X-linked 4 (Cowchock syndrome) - (XR)

14.46

23217327

8666389

AIFM1 (Xq24-q26.1)

Apoptosis-inducing factor, Mitochondria-associated 1(M)

	* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD
	* Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK
	* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD
	* Combined Oxidative phosphorylation Deficiency 6 - COXPD6
	* Cerebellar ataxia with neuropathy, hearing loss and intellectual disability

Charcot-Marie-Tooth neuropathy X-linked 5 (with hearing loss and optic neuropathy) - (XR)

14.47

17701900

PRPS1 (Xq21.32-q24)

Phosphoribosyl pyrophosphate synthetase 1

* charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5

Charcot-Marie-Tooth neuropathy X-linked 6 - (XD)

14.48

23297365

PDK3 (Xp22.11)

Pyruvate dehydrogenase kinase, isoenzyme 3(M)

* Charcot-Marie-Tooth neuropathy X-linked 6

Charcot-Marie-Tooth disease, X-linked recessive related to DRP2 - (XLR)

14.49

26227883

31217940

DRP2 (Xq22.1)

Dystrophin-related protein 2

* Charcot-Marie-Tooth disease, X-linked recessive related to DRP2

Déjerine-Sottas syndrome (DSS or CMT3)

Grey lines background indicate newly added items

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Dejerine-Sottas hypertrophic neuropathy, dominant - (AD)

14.50

8275092

PMP22 (17p12-p11.2)

Peripheral myelin protein 22

	* Neuropathy, recurrent, with pressure palsies - HNPP
	* Dejerine-Sottas Syndrome - DSSB
	* Charcot-Marie-Tooth disease, type 1A - CMT1A
	* Charcot-Marie-Tooth disease, type 1E - CMT1E

Dejerine-Sottas hypertrophic neuropathy, dominant - (AD)

14.51

7506095

MPZ (1q22)

Myelin protein zero

	* Charcot-Marie-Tooth disease, type 2I - CMT2I
	* Charcot-Marie-Tooth disease, type 2J - CMT2J
	* Charcot-Marie-Tooth disease, type 1B - CMT1B
	* Neuropathy, congenital hypomyelinating, 2 - CHN2
	* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
	* Dejerine-Sottas syndrome - DSSA

Dejerine-Sottas hypertrophic neuropathy, dominant - (AD digenic)

14.52

15947997

EGR2 (10q21.1)

Early growth response 2 protein

GJB1 (Xq13.1)

Gap junction protein, beta 1, 32kDa (connexin 32)

	* Charcot-Marie-Tooth disease, type 1D - CMT1D
	* Charcot-Marie-Tooth neuropathy Type 4E - CMT4E
	* Dejerine-Sottas syndrome - DSS
	* Neuropathy, congenital hypomyelinating, 1 - CHN1
	* Charcot-Marie-Tooth neuropathy, X-linked - CMTX1

Dejerine-Sottas hypertrophic neuropathy, recessive - (AR)

14.53

11133365

PRX (19q13)

Periaxin

	* Charcot-Marie-Tooth disease, type 4F - CMT4F
	* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F

B. Charcot-Marie-Tooth neuropathy, type 2 (axonal) = CMT2

Autosomal dominant CMT2

Grey lines background indicate newly added items

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Charcot-Marie-Tooth neuropathy Type 2A1 - (AD)

14.54

1733853

KIF1B (1p36.2)

Kinesin family member 1B(M)

* Charcot-Marie-Tooth disease, type 2A1 - CMT2A1

Charcot-Marie-Tooth neuropathy Type 2A2 - (AD)

14.55

15064763

8406488

MFN2 (1p36.22)

Mitofusin 2(M)

	* Hereditary motor and sensory neuropathy 2A - CMT2A2A
	* Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B
	* Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A

Charcot-Marie-Tooth neuropathy Type 2B - (AD)

14.56

10732809

12870133

7573046

RAB7A (3q21)

RAB7, member RAS oncogene family

* Charcot-Marie-Tooth neuropathy Type 2B - CMT2B

Hereditary motor and sensory neuropathy, type IIC - (AD)

14.57

TRPV4 (12q23-q24)

Transient receptor potential cation channel, subfamily V, member 4

	* Scapuloperoneal spinal muscular atrophy - SPSMA
	* Neuronopathy, distal hereditary motor, type VIII - HMN8
	* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL
	* Spinal muscular atrophy, congenital benin, with contractures - SMAL

Charcot-Marie-Tooth neuropathy Type 2D - (AD)

14.58

8872480

GARS1 (7p15)

Glycyl-tRNA synthetase

	* Neuropathy, distal hereditary motor type V - HMN V
	* Spinal muscular atrophy, distal, type V - DSMAV
	* Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D

Charcot-Marie-Tooth neuropathy Type 2E - (AD)

14.59

10841809

12393795

12481988

NEFL (8p21)

Neurofilament, light polypeptide 68kDa

	* Charcot-Marie-Tooth disease, type 1F - CMT1F
	* Charcot-Marie-Tooth disease, type 2E - CMT2E
	* Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G

Charcot-Marie-Tooth neuropathy Type 2F - (AD, AR)

14.60

11528513

15122254

33943041

HSPB1 (7q11.23)

Heat shock 27kDa protein 1

	* Charcot-Marie-Tooth neuropathy Type 2F - CMT2F
	* Neuropathy, distal hereditary motor, type IIB - HMN2B

Charcot-Marie-Tooth neuropathy Type 2H - (AD)

14.61

11166163

? - (8q21.3)

* Charcot-Marie-Tooth neuropathy Type 2H - CMT2H

Charcot-Marie-Tooth neuropathy Type 2I - (AD)

14.62

14638973

MPZ (1q22)

Myelin protein zero

	* Charcot-Marie-Tooth disease, type 2I - CMT2I
	* Charcot-Marie-Tooth disease, type 2J - CMT2J
	* Charcot-Marie-Tooth disease, type 1B - CMT1B
	* Neuropathy, congenital hypomyelinating, 2 - CHN2
	* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
	* Dejerine-Sottas syndrome - DSSA

Charcot-Marie-Tooth neuropathy Type 2J - (AD)

14.63

10071056

10329755

MPZ (1q22)

Myelin protein zero

	* Charcot-Marie-Tooth disease, type 2I - CMT2I
	* Charcot-Marie-Tooth disease, type 2J - CMT2J
	* Charcot-Marie-Tooth disease, type 1B - CMT1B
	* Neuropathy, congenital hypomyelinating, 2 - CHN2
	* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
	* Dejerine-Sottas syndrome - DSSA

Charcot-Marie-Tooth neuropathy Type 2K - (AD, AR)

14.64

11743579

12707075

15805163

GDAP1 (8q13-q21)

Ganglioside-induced differentiation-associated protein 1

	* Charcot-Marie-Tooth disease, type 4A - CMT4A
	* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A
	* Charcot-Marie-Tooth disease, type 2K - CMT2K
	* Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA

Charcot-Marie-Tooth neuropathy Type 2L - (AD)

14.65

15021985

15565283

HSPB8 (12q24.23)

Heat shock 27kDa protein 8

	* Neuropathy, distal hereditary motor, type II - HMN2A
	* Rimmed vacuole myopathy
	* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L

Charcot-Marie-Tooth neuropathy Type 2N - (AD)

14.66

20045102

AARS (16q22.1)

Alanyl-tRNA synthetase

* Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N

Charcot-Marie-Tooth neuropathy Type 2O - (AD)

14.67

21820100

DYNC1H1 (14q32.31)

Dynein, cytoplasmic 1, heavy chain 1

	* Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O
	* Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED

Charcot-Marie-Tooth neuropathy Type 2P - (AD)

14.68

20865121

22012984

22781092

LRSAM1 (9q33.3)

Leucine rich repeat and sterile alpha motif containing 1

* Charcot-Marie-Tooth neuropathy Type 2P - CMT2P

Charcot-Marie-Tooth neuropathy Type 2Q - (AD)

14.69

23141294

DHTKD1 (10p14)

Dehydrogenase E1 and transketolase domain containing 1(M)

* Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q

Charcot-Marie-Tooth neuropathy Type 2U

14.70

23729695

MARS1 (12q13.3)

Methionyl-tRNA synthetase

	* Charcot-Marie-Tooth neuropathy Type 2U - CMT2U
	* Spastic paraplegia 70, autosomal recessive - SPG70

Charcot-Marie-Tooth neuropathy Type 2V - (AD)

14.71

25818867

NAGLU (17q21.2)

N-acetyl-alpha-glucosaminidase

* Charcot-Marie-Tooth neuropathy Type 2V - CMT2V

Charcot-Marie-Tooth neuropathy Type 2W - (AD)

14.72

22930593

26072516

HARS (5q31.3)

Histidyl-tRNA synthetase

* Charcot-Marie-Tooth neuropathy Type 2W - CMT2W

Charcot-Marie-Tooth neuropathy Type 2Y - (AD)

14.73

25125609

VCP (9p13-p12)

Valosin-containing protein

	* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1
	* Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD
	* Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14
	* Scapuloperoneal muscular dystrophy and dropped head syndrome
	* Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y

Charcot-Marie-Tooth neuropathy Type 2Z - (AD)

14.74

26497905

26659848

MORC2 (2q12.2)

MORC family CW-type zinc finger 2

* Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z

Charcot-Marie-Tooth disease, axonal, type 2CC - (AD)

14.75

27040688

NEFH (22q12.2)

Neurofilament, heavy polypeptide

	* Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC
	* Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC

Charcot-Marie-Tooth disease, axonal, type 2DD - (AD)

14.76

29499166

ATP1A1 (1p13.1)

ATPase, Na+/K+ transporting, alpha-1 polypeptide

	* Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD
	* Charcot-Marie-Tooth disease, type 1, related to ATP1A1

Charcot-Marie-Tooth disease, axonal, type 2FF - (AD)

14.77

33889941

CADM3 (1q23.2)

Cell adhesion molecule 3

* Charcot-Marie-Tooth disease, axonal, type 2FF - CMD2FF

Hereditary motor and sensory neuropathy, Okinawa type - (AD)

14.78

TFG (3q13)

TRK-fused gene

	* Hereditary motor and sensory, neuropathy, proximal, type - HMSNP
	* Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO
	* Spastic paraplegia 57, autosomal recessive - SPG57

Hereditary motor and sensory neuropathy, type VIA with optic atrophy - (AD)

14.79

16437557

MFN2 (1p36.22)

Mitofusin 2(M)

	* Hereditary motor and sensory neuropathy 2A - CMT2A2A
	* Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B
	* Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A

CMT2 related to KIF5A - (AD)

14.80

25008398

KIF5A (12q13.13)

Kinesin family member 5A

	* Spastic paraplegia 10 - SPG10
	* CMT2 related to KIF5A
	* Amyotrophic lateral sclerosis 25, susceptibility to - ALS25

Early onset axonal neuropathy with sensory ataxia - (AD)

14.81

26786738

DGAT2 (1q13.3)

Diacylglycerol O-acyltransferase 2

* Early onset axonal neuropathy with sensory ataxia

Charcot-Marie-Tooth disease, axonal, related to BAG3 - (AD)

14.82

28224639

BAG3 (10q25.2-q26.2)

BCL2-associated athanogene 3

	* myofibrillar myopathy with bag3 defect
	* Dilated cardiomyopathy related to BAG3 - CMD1HH
	* Charcot-Marie-Tooth disease, axonal, related to BAG3

Charcot-Marie-Tooth disease, axonal, related to JAG1 - (AD)

14.83

32065591

JAG1 (20p12.2)

Jagged 1

* Charcot-Marie-Tooth disease, axonal, related to JAG1 - CMT2

Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - (AD)

14.84

34675106

NOTCH2NLC (1q21.2)

Notch2 N-terminal-like protein

	* Neuronal intranuclear inclusion diseases - NIID
	* Oculopharyngodistal myopathy
	* Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - CMT2

Charcot-Marie-Tooth disease, axonal, related to CRYAB - (AD)

14.85

37772343

CRYAB (11q22.3-q23.1)

Crystallin, alpha B

	* Dilated cardiomyopathy related to alpha-crystallin
	* Myofibrillar myopathy, alpha-B crystallin related
	* Myopathy, myofibrillar, 2 - MFM2
	* Charcot-Marie-Tooth disease, axonal, related to CRYAB - CMT2

Charcot-Marie-Tooth disease, axonal, related to DHX9 - (AD)

14.86

37467750

DHX9 (1q25.3)

DexH-box helicase 9

* Charcot-Marie-Tooth disease, axonal, related to DHX9 - CMT2

Autosomal recessive CMT2

Grey lines background indicate newly added items

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Charcot-Marie-Tooth disease, axonal, type 2A2B - (AR)

14.87

21715711

MFN2 (1p36.22)

Mitofusin 2(M)

	* Hereditary motor and sensory neuropathy 2A - CMT2A2A
	* Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B
	* Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A

Charcot-Marie-Tooth disease, axonal, type 2B1 - (AR)

14.88

10441578

17467691

LMNA (1q22)

Lamin A/C

	* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1
	* Hutchinson-Gilford progeria syndrome - HGPS
	* Mandibuloacral dysplasia with type a lipodystrophy - MADA
	* restrictive dermopathy
	* Lipodystrophy, familial partial, type 2 - FPLD2
	* Cardiomyopathy, dilated, 1A - CMD1A
	* Congenital muscular dystrophy due to LMNA defect (L-CMD)
	* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2
	* Emery-Dreifuss Autosomal recessive - EDMD3
	* Muscular dystrophy, limb-girdle, type 1B - LGMD1B

Charcot-Marie-Tooth disease, axonal, type 2B2 - (AR)

14.89

19290556

30039206

PNKP (19q13.33)

polynucleotide kinase 3’-phosphatase

	* Charcot-Marie-Tooth disease, type 2B2 - CMT2B2
	* Early-onset axonal Charcot-Marie-Tooth with ataxia

Charcot-Marie-Tooth disease, axonal, type 2EE - (AR)

14.90

26437932

30298599

MPV17 (2p23.3)

MpV17 mitochondrial inner membrane protein(M)

* Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE

Autosomal recessive CMT2 related to DNAJB2 - (AR)

14.91

25274842

DNAJB2 (2q32-q34)

DnaJ (Hsp40) homolog, subfamily B, member 2

	* Spinal muscular atrophy, distal related to DNAJB2
	* Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5
	* Autosomal recessive CMT2 related to DNAJB2

Neuromyotonia and axonal neuropathy, autosomal recessive - (AR)

14.92

22961002

HINT1 (5q23.3)

Histidine triad nucleotide binding protein 1

	* Neuromyotonia and axonal neuropathy, autosomal recessive - NMAN
	* Neuronopathy, Distal hereditary motor related to HINT1

Charcot-Marie-Tooth disease, type 2R - (AR)

14.93

23562820

25893792

TRIM2 (4q31.3)

Tripartite motif containing 2

* Charcot-Marie-Tooth neuropathy Type 2R - CMT2R

Charcot-Marie-Tooth disease, type 2S - (AR)

14.94

25439726

25568292

IGHMBP2 (11q13.2-q13.4)

Immunoglobulin mu binding protein 2

	* Spinal muscular atrophy with respiratory distress - SMARD1
	* Autosomal recessive CMT axonal type 2S - CMT2S

Charcot-Marie-Tooth disease, type 2T - (AR)

14.95

26991897

MME (3q25.2)

Membrane metallo-endopeptidase

	* Charcot-Marie-Tooth neuropathy Type 2T - CMT2T
	* Spinocerebellar Ataxia, type 43 - SCA43

Charcot-Marie-Tooth disease, type 2X - (61)

14.96

26556829

SPG11 (15q21.1)

SPG11 vesicle trafficking associated, Spatacsin

	* Spastic paraplegia 11 - SPG11
	* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X
	* Amyotrophic lateral sclerosis 5 - ALS5

Early-onset axonal Charcot-Marie-Tooth with ataxia - (AR)

14.97

27066567

PNKP (19q13.33)

polynucleotide kinase 3’-phosphatase

	* Charcot-Marie-Tooth disease, type 2B2 - CMT2B2
	* Early-onset axonal Charcot-Marie-Tooth with ataxia

Charcot-Marie-Tooth disease, axonal - (AR)

14.98

28077491

SGPL1 (10q22.1)

Sphingosine-1-Phosphate Lyase 1

* Charcot-Marie-Tooth disease, axonal

Charcot-Marie-Tooth disease, axonal, related to SCO2 - (AR)

14.99

29351582

SCO2 (22q13.33)

Cytochrome c oxidase assembly protein(M)

	* Mitochondrial complex IV deficiency, nuclear type 2 - MC4DN2 (CEMCOX1)
	* Charcot-Marie-Tooth disease, axonal, related to SCO2

Charcot-Marie-Tooth disease, axonal; related to SACS - (AR)

14.100

29277257

SACS (13q12)

Sacsin

	* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS
	* Charcot-Marie-Tooth disease, axonal; related to SACS
	* Spastic ataxia, Charlevoix-Saguenay type - SACS
	* Spastic ataxia Charlevoix-Saguenay type - SPAX6

Sorbitol dehydrogenase deficiency with peripheral neuropathy (CMT2 AR) - (AR)

14.101

32367058

SORD (15q21.1)

Sorbitol Dehydrogenase

	* Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD
	* Neuropathy, hereditary motor, autosomal recessive 8 - HMNR8

Charcot-Marie-Tooth disease, axonal - (AR)

14.102

32954258

MCM3AP (21q22.3)

Minichromosome maintenance 3-associated protein

	* Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID
	* Charcot-Marie-Tooth disease, axonal

Charcot-Marie-Tooth disease, axonal - (AR)

14.103

34595861

B4GALNT1 (12q13.3)

Beta-1,4-N-acetyl-galactosaminyl transferase 1

	* Spastic paraplegia 26 - SPG26
	* Charcot-Marie-Tooth disease, axonal

Charcot-Marie-Tooth disease, axonal - (AR)

14.104

36260368

MYO9B (19p13.11)

Myosin IXB

* Charcot-Marie-Tooth disease, axonal

Progressive neuropathy - (AR)

14.105

34089226

PSAT1 (9q21.2)

Phosphoserine Aminotransferase 1

* Progressive neuropathy

D. Other Hereditary sensory and autonomic neuropathy (HSAN)

Grey lines background indicate newly added items

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Hereditary sensory and autonomic neuropathy, type IA - (AD)

14.106

11242106

11242114

8673084

SPTLC1 (9q22.2)

Serine palmitoyltransferase subunit 1

	* Neuropathy, hereditary sensory, type 1 - HSN1
	* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1
	* Amyotrophic lateral sclerosis

Hereditary sensory and autonomic neuropathy type IB with cough and gastroesophageal reflux - (AD)

14.107

12870133

? - (3p24-p22)

* hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag - HSAN1B

Hereditary sensory and autonomic neuropathy, type IC - (AD)

14.108

20920666

SPTLC2 (14q24.3)

Serine palmitoyltransferase long chain base subunit 2

* Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C

Hereditary sensory and autonomic neuropathy type IIA - (AR)

14.109

15060842

18521183

WNK1 (12p.13)

WNK lysine deficient protein kinase 1

* neuropathy, hereditary sensory and autonomic, type iia - HSAN2

Hereditary sensory and autonomic neuropathy type IIB - (AR)

14.110

19838196

RETREG1 (5p15.1)

Family with sequence similarity 134 member B

* Hereditary sensory neuropathy, type IIB - HSAN2B

Neuropathy, hereditary sensory and autonomic, type IID - (AR)

14.111

23596073

SCN9A (2q24.3)

Sodium voltage-gated channel alpha subunit 9

	* Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D
	* Erythromelalgia, Primary - SFNP

Hereditary sensory and autonomic neuropathy type III - (AR)

14.112

8102296

ELP1 (9q31.3)

Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

	* Neuropathy, hereditary sensory and autonomic, type III - HSAN3
	* Familial dysautonomia (Riley-Day syndrome)

Hereditary sensory and autonomic neuropathy type IV - (AR)

14.113

8696348

NTRK1 (1biq23.1)

neurotrophic receptor tyrosine kinase 1

* Hereditary sensory and autonomic neuropathy type IV - HSAN4

Hereditary sensory and autonomic neuropathy type V - (AR)

14.114

14976160

NGF (1p13.1)

Nerve growth factor (beta polypeptide)

* neuropathy, hereditary sensory and autonomic type v - HSAN5

Hereditary sensory and autonomic neuropathy type VI - (AR)

14.115

22522446

DST (6p12.1)

Dystonin

* Hereditary sensory and autonomic neuropathy type VI - HSAN6

Neuropathy, hereditary sensory and autonomic, type VII - (AD)

14.116

24036948

SCN11A (3p22.2)

Sodium voltage-gated channel alpha subunit 11

	* Neuropathy, hereditary sensory and autonomic, type VII - HSAN7
	* Episodic pain syndrome, familial 3 - FEPS3

Hereditary sensory and autonomic neuropathy type VIII - (AR)

14.117

26005867

PRDM12 (9q34.12)

PR/SET domain 12 (positive regulatory domain zinc finger protein 12)

* Hereditary sensory and autonomic neuropathy type VIII - HSAN8

Hereditary sensory neuropathy type ID - (AD)

14.118

21194679

ATL1 (14q22.1)

Atlastin GTPase 1

	* Neuropathy, hereditary sensory, type ID - HSN1D
	* Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A

Hereditary sensory neuropathy type IE - (AD)

14.119

21532572

DNMT1 (19p13.2)

DNA (cytosine-5)-methyltransferase 1

	* Neuropathy, hereditary sensory, type 1E - HSN1E
	* Hereditary sensory neuropathy with dementia and hearing loss

Neuropathy, hereditary sensory, type IF - (AD)

14.120

24459106

ATL3 (11q13.1)

atlastin GTPase 3

* Hereditary sensory neuropathy type IF - HSN IF

Hereditary sensory neuropathy, type IIC - (AD)

14.121

21820098

KIF1A (2q37.3)

Kinesin family member 1A

	* Neuropathy, hereditary sensory, type IIC - HSN2C
	* Spastic paraplegia 30 - SPG30

Ataxia, posterior column, with retinitis pigmentosa (PCARP) - (AR)

14.122

21070897

FLVCR1 (1q32.3)

Feline leukemia subgroup C receptor 1

* Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1

Absence of pain, Congenital - (AR)

14.123

26068709

CLTCL1 (22q11.21)

Clathrin, heavy polypeptide-like 1

* Absence of pain, Congenital

Marssili syndrome (insensitivity to pain, congenital, AD) - (AD)

14.124

29253101

ZFHX2 (14q11.2)

Zinc finger homeobox 2

* Marssili syndrome (insensitivity to pain, congenital, AD) - MARSIS

Erythromelalgia, Primary - (AD)

14.125

16216943

21698661

SCN9A (2q24.3)

Sodium voltage-gated channel alpha subunit 9

	* Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D
	* Erythromelalgia, Primary - SFNP

Episodic pain syndrome, familial 3 - (AD)

14.126

24207120

24776970

SCN11A (3p22.2)

Sodium voltage-gated channel alpha subunit 11

	* Neuropathy, hereditary sensory and autonomic, type VII - HSAN7
	* Episodic pain syndrome, familial 3 - FEPS3

Polyneuropathy with erythromelalgia - (AR)

14.127

31132363

NMNAT2 (1q25.3)

Nicotinamide nucleoside adenyltransferase 2

* Polyneuropathy with erythromelalgia

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - (AR)

14.128

30926972

RFC1 (4p14)

Replication Factor C Subunit 1

* Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - CANVAS

E. Other complex neuropathy syndromes

Grey lines background indicate newly added items

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Peripheral neuropathy and agenesis of the corpus callosum (Charlevoix disease) - (AR)

14.129

8554065

SLC12A6 (15q13-q15)

Potassium chloride cotransporter KCC3

	* Agenesis of the corpus callosum with peripheral neuropathy - ACCPN
	* Charlevoix disease - SLC12A6
	* Andermann syndrome - SLC12A6

Peripheral neuropathy and deafness, autosomal dominant - (AD)

14.130

11309368

GJB3 (1p34.3)

Gap junction protein, beta 3, 31kDa (=connexin 31)

* Peripheral neuropathy and deafness, autosomal dominant

Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) - (AD)

14.131

8780104

SEPT9 (17q25)

Septin 9

* Familial brachial plexus neuropathy - HNA

Giant axonal neuropathy-1 - (AR)

14.132

10732815

11062483

GAN1 (16q23.2)

Gigaxonin

* Giant axonal neuropathy-1 - GAN1

Giant axonal neuropathy-2 - (AD)

14.133

24500646

DCAF8 (1q23.2)

DDB1 and CUL4 associated factor 8

* Giant axonal neuropathy 2 - GAN2

Congenital cataracts, facial dysmorphism and neuropathy - (AR)

14.134

14517542

CTDP1 (18q23)

CTD phosphatase subunit 1

* congenital cataracts, facial dysmorphism, and neuropathy - CCFDN

Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysgenesis - (AR)

14.135

24126608

VRK1 (14q32)

Vaccinia related kinase 1

	* Pontocerebellar hypoplasia type 1 - PCH1
	* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge
	* Spinal muscular atrophy, distal, autosomal recessive - DSMA

Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (AR)

14.136

16333315

16399879

CCT5 (5p15.2)

Chaperonin containing TCP1 subunit 5

* Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive

Neuronal intranuclear inclusion diseases - (AD)

14.137

31178126

31332380

31332381

NOTCH2NLC (1q21.2)

Notch2 N-terminal-like protein

	* Neuronal intranuclear inclusion diseases - NIID
	* Oculopharyngodistal myopathy
	* Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - CMT2

Hereditary peripheral neuropathy (CMT ?) - (AD)

14.138

32077526

SLC9A3R1 (17q25.1)

Solute carrier family 9, member 3, regulator 1

* Hereditary peripheral neuropathy

Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - (AR, AD)

14.139

32738225

NARS1 (18q21.31)

Asparaginyl-tRNA Synthetase 1

* Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - NEDMILG

Myopathy, Congenital, With Neuropathy And Deafness - (AR)

14.140

28540413

SPTBN4 (19q13)

Spectrin, Beta, Nonerythrocytic, 4

* Myopathy, Congenital, With Neuropathy And Deafness - CMND

GeneTable of Neuromuscular Disorders