1. Muscular dystrophies5. Other myopathies9. Metabolic myopathies13. Hereditary ataxias
2. Congenital muscular dystrophies6. Myotonic syndromes10. Hereditary cardiomyopathies14. Hereditary motor and sensory neuropathies
3. Congenital myopathies7. Ion channel muscle diseases11. Congenital myasthenic syndromes15. Hereditary paraplegias
4. Distal myopathies8. Malignant hyperthermia12. Motor neuron diseases16. Other neuromuscular disorders

14. HEREDITARY MOTOR AND SENSORY NEUROPATHIES (HMSN) (See references) - (download list of genes)
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 1A, demyelinating - (AD)
14.1
1303228
1303230
1303231
2220808
2707366
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
Charcot-Marie-Tooth neuropathy Type 1B, demyelinating - (AD)
14.2
6952764
6954871
7506095
7693130
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 - CMT4E
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
* Dejerine-Sottas syndrome - DSSA
Charcot-Marie-Tooth neuropathy 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 neuropathy 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 neuropathy - DSN
* Neuropathy, congenital hypomyelinating - CHN
Charcot-Marie-Tooth neuropathy 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
CMT with Congenital vertical talus - (AD)
14.8
15146389
HOXD10 (2q31.1)
Homeobox D10
* Charcot-Marie-Tooth disease, congenital, vertical talus
Slowed nerve conduction velocity - (AD)
14.9
10520946
14508709
9678704
ARHGEF10 (8p23)
Rho guanine nucleotide exchange factor 10
* Slowed nerve conduction velocity, autosomal dominant - NCV
Charcot-Marie-Tooth neuropathy, with fibulin defect - (AD)
14.10
21576112
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)
* Charcot-Marie-Tooth neuropathy, with fibulin defect
Charcot-Marie-Tooth neuropathy, dominant intermediate A - (AD)
14.11
11533914
26828946
PMP2 (8q21.13)
peripheral myelin protein-2
* charcot-marie-tooth neuropathy, dominant intermediate A - CMTDIA
Charcot-Marie-Tooth neuropathy, dominant intermediate B - (AD)
14.12
15731758
DNM2 (19p13.2)
Dynamin 2
* centronuclear myopathy, dominant - CNM
Charcot-Marie-Tooth neuropathy, dominant intermediate C - (AD)
14.13
14606043
16429158
YARS (1p35.1)
Tyrosyl-tRNA synthetase
* Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC
Charcot-Marie-Tooth neuropathy, dominant intermediate D - (AD)
14.14
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 - CMT4E
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
* Dejerine-Sottas syndrome - DSSA
Charcot-Marie-Tooth neuropathy with glomerulopathy - (AD)
14.15
22187985
INF2 (14q32-33)
Inverted formin 2
* Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE
Charcot-Marie-Tooth neuropathy Type F - (AD)
14.16
23434117
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4
* Charcot-Marie-Tooth neuropathy Type F - CMTD1F
Charcot-Marie-Tooth neuropathy Type 4A - (AR)
14.17
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 neuropathy Type 4B1 - (AR)
14.18
10802647
8817346
MTMR2 (11q22)
Myotubularin-related protein 2
* Charcot-Marie-Tooth disease, type 4B1 - CMT4B1
Charcot-Marie-Tooth neuropathy Type 4B2 - (AR)
14.19
12554688
12687498
23749797
SBF2 (11p15.4)
SET binding factor 2
* charcot-marie-tooth disease, type 4b2 - CMT4B2
Charcot-Marie-Tooth neuropathy Type 4B3 - (AR)
14.20
23749797
SBF1 (22q13.33)
SET binding factor 1
* Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3
Charcot-Marie-Tooth neuropathy Type 4C - (AR)
14.21
8894708
SH3TC2 (5q32)
KIAA1985 protein
* Charcot-Marie-Tooth neuropathy Type 4F - CMT4C
Charcot-Marie-Tooth neuropathy Type 4D (HMSN Lom, with deafness) - (AR)
14.22
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
Charcot-Marie-Tooth neuropathy Type 4E (congenital hypomyelinating myopathy) - ( )
14.23
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 neuropathy - DSN
* Neuropathy, congenital hypomyelinating - CHN
Charcot-Marie-Tooth neuropathy Type 4E (congenital hypomyelinating myopathy) - ( )
14.24
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 - CMT4E
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
* Dejerine-Sottas syndrome - DSSA
Charcot-Marie-Tooth neuropathy Type 4F - (AR)
14.25
10848494
11133365
PRX (19q13)
Periaxin
* Charcot-Marie-Tooth disease, type 4F - CMT4F
* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F
Charcot-Marie-Tooth neuropathy Type 4G (type Russe) - (AR)
14.26
10915613
22978647
HK1 (10q22.1)
Hexokinase 1(M)
* Charcot-Marie-Tooth neuropathy Type 4G - CMT4G
Charcot-Marie-Tooth neuropathy Type 4H - (AR)
14.27
17564959
17564972
FGD4 (12p11.21)
Actin-filament binding protein Frabin
* Charcot-Marie-Tooth neuropathy Type 4H - CMT4H
Charcot-Marie-Tooth neuropathy Type 4J - (AR)
14.28
17572665
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3
* charcot-marie-tooth disease, type 4j - CMT4J
* Amyotrophic lateral sclerosis 11 - ALS11
Charcot-Marie-Tooth neuropathy Type 4K - (AR)
14.29
24027061
SURF1 (9q34.2)
surfeit 1(M)
* Charcot-Marie-Tooth neuropathy Type 4K - CMT4K
Charcot-Marie-Tooth neuropathy X-linked 1 - (XD)
14.30
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)
14.31
1557086
? - (Xp22.2)
* charcot-marie-tooth disease, x-linked recessive, 2 - CMTX2
Charcot-Marie-Tooth neuropathy X-linked 3 - (XR)
14.32
1557086
17159110
? - (Xq26)
* charcot-marie-tooth disease, x-linked recessive, 3 - CMTX3
Charcot-Marie-Tooth neuropathy X-linked 4 (Cowchock syndrome) - (XR)
14.33
23217327
8666389
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, mitochondrionassociated 1(M)
* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD
* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD
* Cowchock syndrome - NAMSD
Charcot-Marie-Tooth neuropathy X-linked 5 (with hearing loss and optic neuropathy) - (XR)
14.34
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)
14.35
23297365
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)
* Charcot-Marie-Tooth neuropathy X-linked 6
Dejerine-Sottas hypertrophic neuropathy, dominant - (AD)
14.36
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)
14.37
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 - CMT4E
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
* Dejerine-Sottas syndrome - DSSA
Dejerine-Sottas hypertrophic neuropathy, dominant - (AD digenic)
14.38
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 neuropathy - DSN
* Neuropathy, congenital hypomyelinating - CHN
* Charcot-Marie-Tooth neuropathy, X-linked - CMTX1
Dejerine-Sottas hypertrophic neuropathy, recessive - (AR)
14.39
11133365
PRX (19q13)
Periaxin
* Charcot-Marie-Tooth disease, type 4F - CMT4F
* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F
Charcot-Marie-Tooth neuropathy Type 2A1 - (AD)
14.40
1733853
KIF1B (1p36.2)
Kinesin family member 1B(M)
* Charcot-Marie-Tooth disease, type 2A1 - CMT2A1
Charcot-Marie-Tooth neuropathy Type 2A2 - (AD)
14.41
15064763
8406488
MFN2 (1p36.22)
Mitofusin 2(M)
* Hereditary motor and sensory neuropathy 2A - CMT2A
Charcot-Marie-Tooth neuropathy Type 2B - (AD)
14.42
10732809
12870133
7573046
RAB7A (3q21)
RAB7, member RAS oncogene family
* Charcot-Marie-Tooth neuropathy Type 2B - CMT2B
Charcot-Marie-Tooth neuropathy Type 2C - (AD)
14.43
12682323
15668982
20037586
20037587
20037588
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4
* Scapuloperoneal spinal muscular atrophy - SPSMA
* 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)
14.44
8872480
GARS (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)
14.45
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 neuropathy Type 2F - (AD)
14.46
11528513
15122254
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 2G - (AD)
14.47
14985381
? - (12q12-q13)
* Charcot-Marie-Tooth neuropathy Type 2G - CMT2G
Charcot-Marie-Tooth neuropathy Type 2H - (AD)
14.48
11166163
? - (8q21.3)
* Charcot-Marie-Tooth neuropathy Type 2H - CMT2H
Charcot-Marie-Tooth neuropathy Type 2I (late onset) - (AD)
14.49
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 - CMT4E
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
* Dejerine-Sottas syndrome - DSSA
Charcot-Marie-Tooth neuropathy Type 2J (with hearing loss and pupillary abnormality) - (AD)
14.50
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 - CMT4E
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID
* Dejerine-Sottas syndrome - DSSA
Charcot-Marie-Tooth neuropathy Type 2K - (AD, AR)
14.51
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 neuropathy Type 2L - (AD)
14.52
15021985
15565283
HSPB8 (12q24.23)
Heat shock 27kDa protein 8
* Neuropathy, distal hereditary motor, type II - HMN2A
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L
Charcot-Marie-Tooth neuropathy Type 2N - (AD)
14.53
20045102
AARS (16q22.1)
Alanyl-tRNA synthetase
* Dominant distal hereditary motor neuropathy
* Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N
Charcot-Marie-Tooth neuropathy Type 2O - (AD)
14.54
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)
14.55
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)
14.56
23141294
DHTKD1 (10p14)
dehydrogenase E1 and transketolase domain containing 1
* Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q
Charcot-Marie-Tooth neuropathy Type 2R - (AR)
14.57
23562820
25893792
TRIM2 (4q31.3)
Tripartite motif containing 2
* Charcot-Marie-Tooth neuropathy Type 2R - CMT2R
Charcot-Marie-Tooth neuropathy Type 2T - (AR)
14.58
26991897
MME (3q25.2)
membrane metallo-endopeptidase
* Charcot-Marie-Tooth neuropathy Type 2T - CMT2T
* Spinocerebellar Ataxia, type 43 - SCA43
Charcot-Marie-Tooth neuropathy Type 2V - (AD)
14.59
25818867
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase
* Charcot-Marie-Tooth neuropathy Type 2V - CMT2V
Charcot-Marie-Tooth neuropathy Type 2W - (AD)
14.60
22930593
26072516
HARS (5q31.3)
histidyl-tRNA synthetase
* Charcot-Marie-Tooth neuropathy Type 2W - CMT2W
Charcot-Marie-Tooth neuropathy Type 2X - (61)
14.61
26556829
SPG11 (15q21.1)
Spatacsin
* Spastic paraplegia 11 - SPG11
* Amyotrophic lateral sclerosis 5 - ALS5
* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X
Charcot-Marie-Tooth neuropathy Type 2Z - (AD)
14.62
26497905
26659848
MORC2 (2q12.2)
MORC family CW-type zinc finger 2
* Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z
Hereditary motor and sensory neuropathy, Okinawa type - (AD)
14.63
10545038
17906970
23553329
9189038
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
Charcot-Marie-Tooth 2 (late-onset)
14.64
23729695
MARS (12q13.3)
methionyl-tRNA synthetase
* Charcot-Marie-Tooth 2
CMT2 related to KIF5A - (AD)
14.65
25008398
KIF5A (12q13.13)
Kinesin family member 5A
* Spastic paraplegia 10 - SPG10
* CMT2 related to KIF5A
Early onset axonal neuropathy with sensory ataxia - (AD)
14.66
26786738
DGAT2 (1q13.3)
diacylglycerol O-acyltransferase 2
* Early onset axonal neuropathy with sensory ataxia
Early-onset axonal Charcot-Marie-Tooth with ataxia - (AR)
14.67
27066567
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase
* Early-onset axonal Charcot-Marie-Tooth with ataxia
Charcot-Marie-Tooth neuropathy Autosomal recessive CMT2A - (AR)
14.68
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 neuropathy Autosomal recessive CMT2B - (AR)
14.69
11112660
19290556
MED25 (19q13)
Mediator complex subunit 25
* Charcot-Marie-Tooth disease, type 2B2 - CMT2B2
Autosomal recessive CMT2 related to DNAJB2 - (AR)
14.70
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
Axonal neuropathy with myotonia - (AR)
14.71
22961002
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1
* Axonal neuropathy with myotonia - NMAN
Axonal neuropathy recessive - (AR)
14.72
20920668
KARS (16q23.1)
Lysyl-tRNA synthetase
* Axonal neuropathy recessive - CMTRIB
Axonal neuropathy intermediate recessive C - (AR)
14.73
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
CMT recessive intermediate D - (AR)
14.74
25152455
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1(M)
* CMT recessive intermediate D - CMTRID
Autosomal recessive CMT axonal type 2S - (AR)
14.75
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
Hereditary sensory and autonomic neuropathy type I - (AD)
14.76
11242106
11242114
8673084
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1
* Neuropathy, hereditary sensory, type 1 - HSN1
* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1
Hereditary sensory and autonomic neuropathy type IB with cough and gastroesophageal reflux - (AD)
14.77
12870133
? - (3p24-p22)
* hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag - HSAN1B
Hereditary sensory and autonomic neuropathy type I - (AD)
14.78
20920666
SPTLC2 (14q24.3)
Serine palmitoyltransferase long chain base subunit 2
* Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C
Hereditary sensory neuropathy type ID - (AD)
14.79
21194679
ATL1 (14q22.1)
Atlastin GTPase 1
* Neuropathy, hereditary sensory, type ID - HSN1D
* Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A
Neuropathy, hereditary sensory, type IF - (AD)
14.80
24459106
ATL3 (11q13.1)
atlastin GTPase 3
* Hereditary sensory neuropathy type IF - HSN IF
Hereditary sensory and autonomic neuropathy type II - (AR)
14.81
15060842
18521183
WNK1 (12p.13)
WNK lysine deficient protein kinase 1
* neuropathy, hereditary sensory and autonomic, type iia - HSAN2
Hereditary sensory neuropathy, type IIB - (AR)
14.82
19838196
FAM134B (5p15.1)
family with sequence similarity 134 member B
* Hereditary sensory neuropathy, type IIB - HSAN2B
Hereditary sensory neuropathy, type IIC - (AD)
14.83
21820098
KIF1A (2q37.3)
Kinesin family member 1A
* Neuropathy, hereditary sensory, type IIC - HSN2C
* Spastic paraplegia 30 - SPG30
Neuropathy, hereditary sensory and autonomic, type IID - (AR)
14.84
23596073
SCN9A (2q24.3)
sodium voltage-gated channel alpha subunit 9
* Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D
Hereditary sensory and autonomic neuropathy type III (Familial dysautonomia, Riley-Day syndrome) - (AR)
14.85
8102296
IKBKAP (9q31-q33)
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)
14.86
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)
14.87
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)
14.88
22522446
DST (6p12.1)
dystonin
* Hereditary sensory and autonomic neuropathy type VI - HSAN6
Neuropathy, hereditary sensory and autonomic, type VII - (AD)
14.89
24036948
SCN11A (3p22.2)
sodium voltage-gated channel alpha subunit 11
* Neuropathy, hereditary sensory and autonomic, type VII - HSAN7
Hereditary sensory and autonomic neuropathy type VIII - (AR)
14.90
26005867
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)
* Hereditary sensory and autonomic neuropathy type VIII - HSAN8
Hereditary motor and sensory neuropathy – Lom (with deafness) - (AD)
14.91
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
Hereditary sensory neuropathy with dementia and hearing loss - (AD)
14.92
21532572
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1
* Neuropathy, hereditary sensory, type 1E - HSN1E
* Hereditary sensory neuropathy with dementia and hearing loss
Peripheral neuropathy and agenesis of the corpus callosum (Charlevoix disease) - (AR)
14.93
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)
14.94
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)
14.95
8780104
SEPT9 (17q25)
Septin 9
* Familial brachial plexus neuropathy - HNA
Giant axonal neuropathy - (AR)
14.96
10732815
11062483
GAN (16q24.1)
Gigaxonin
* Giant axonal neuropathy-1 - GAN1
Giant axonal neuropathy 2 - (AD)
14.97
24500646
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8
* Giant axonal neuropathy 2 - GAN2
Congenital cataracts, facial dysmorphism and neuropathy - (AR)
14.98
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)
14.99
24126608
VRK1 (14q32)
Vaccinia related kinase 1
* Pontocerebellar hypoplasia type 1 - PCH1
* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (AR)
14.100
16333315
16399879
CCT5 (5p15.2)
chaperonin containing TCP1 subunit 5
* Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive