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

15. HEREDITARY PARAPLEGIAS (See references) - (download list of genes)
A) Spastic paraplegias, autosomal dominant
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
Spastic paraplegia 3, autosomal dominant (Strumpell disease) - (AD)
15.1
15517445
23483706
8252041
ATL1 (14q22.1)
Atlastin GTPase 1
* Neuropathy, hereditary sensory, type ID - HSN1D
* Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A
Spastic paraplegia 4, autosomal dominant - (AD)
15.2
7833913
SPAST (2p24-p21)
Spastin
* Familial spastic paraplegia, autosomal dominant, 2 - FSP2
* Spastic paraplegia 4 - SPG4
Spastic paraplegia 6, autosomal dominant - (AD)
15.3
14508710
7825577
NIPA1 (15q11.2)
Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1
* Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6
Spastic paraplegia 8, autosomal dominant - (AD)
15.4
17160902
9973294
KIAA0196 (8q24.13)
Strumpellin
* Spastic paraplegia 8 - SPG8
Spastic paraplegia 9A, autosomal dominant - (AD)
15.5
26297558
9973297
ALDH18A1 (10q24.1)
Aldehyde deydrogenase 18 family, member A1 (M)
* Spastic paraplegia 9 - SPG9A
* Spastic paraplegia 9A, autosomal recessive - SPG9B
Spastic paraplegia 10, autosomal dominant - (AD)
15.6
10441583
KIF5A (12q13.13)
Kinesin family member 5A
* Spastic paraplegia 10 - SPG10
* CMT2 related to KIF5A
* Amyotrophic lateral sclerosis 25, susceptibility to - ALS25
Spastic paraplegia 12, autosomal dominant - (AD)
15.7
10677333
12427890
22232211
RTN2 (19q13)
Reticulon 2
* Spastic paraplegia 12 - SPG12
Spastic paraplegia 13, autosomal dominant - (AD)
15.8
10677329
18571143
HSPD1 (2q33.1)
Heat shock 60kDa protein 1 (chaperonin)(M)
* Spastic paraplegia 13 - SPG13
Spastic paraplegia 17, autosomal dominant (Silver) - (AD)
15.9
14981520
BSCL2 (11q12-q13.5)
Seipin
* Neuronopathy, distal hereditary motor, type V - HMN5
* Spastic paraplegia 17 - SPG17
Spastic paraplegia 19, autosomal dominant - (AD)
15.10
12112072
? - (9q33-q34)
* Spastic paraplegia 19 - SPG19
Spastic paraplegia 29, autosomal dominant - (AD)
15.11
16130112
? - (1p31-p21)
* Spastic paraplegia 29 - SPG29
Spastic paraplegia 31, autosomal dominant - (AD)
15.12
16565863
16826527
REEP1 (2p11.2)
Receptor accessory protein 1(M)
* Distal spinal muscular atrophy, type VB - DSMAVB
* Spastic paraplegia 31 - SPG31
Spastic paraplegia 33, autosomal dominant - (AD)
15.13
16826525
ZFYVE27 (10q24.2)
Zinc finger, FYVE domain containing 27
* Spastic paraplegia 33 - SPG33
Spastic paraplegia 36, autosomal dominant - (AD)
15.14
19357379
? - (12q23-q24)
* Spastic paraplegia 36, autosomal dominant - SPG36
Spastic paraplegia 37, autosomal dominant - (AD)
15.15
17605047
? - (8p21.1-q13.3)
* Spastic paraplegia 37, autosomal dominant - SPG37
Spastic paraplegia 38, autosomal dominant - (AD)
15.16
18401025
? - (4p16-p15)
* Spastic paraplegia 38, autosomal dominant - SPG38
Spastic paraplegia 41, autosomal dominant - (AD)
15.17
18364116
? - (11p14.1-p11.2)
* Spastic paraplegia 41, autosomal dominant - SPG41
Spastic paraplegia 42, autosomal dominant - (AD)
15.18
19061983
SLC33A1 (3q25.3)
Solute carrier family 33 (acetyl- CoA transporter)
* Spastic paraplegia 42, autosomal dominant - SPG42
Spastic paraplegia 72, autosomal dominant - (AD)
15.19
24388663
REEP2 (5q31.2)
Receptor expression-enhancing proten 2
* Spastic paraplegia 72, autosomal recessive - SPG72
* Spastic paraplegia 72, autosomal dominant - SPG72
Spastic paraplegia 73, autosomal dominant - (AD)
15.20
25751282
CPT1C (19q13.33)
Carnitine Palmitoyltransferase 1C
* Spastic paraplegia 73, autosomal dominant - SPG73
Spastic paraplegia 80, autosomal dominant - (AD)
15.21
30929741
UBAP1 (9p13.3)
Ubiquitin-associated protein 1
* Spastic paraplegia 80, autosomal dominant - SPG80
Spastic paraplegia, intellectual disability, nystagmus, and obesity - (AD)
15.22
27005418
KIDINS220 (2p25.1)
kinase D-interacting substrate, 220kDa
* Spastic paraplegia, intellectual disability, nystagmus, and obesity - SINO

B) Spastic paraplegias, autosomal recessive
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
Spastic paraplegia 5A, autosomal recessive - (AR)
15.23
14658060
18252231
19187859
19224311
19439420
7987300
CYP7B1 (8p12-q13)
Cytochrome P450, family 7, subfamily B, polypeptide 1
* Spastic paraplegia 5A - SPG5A
Spastic paraplegia 7, autosomal recessive - (AR)
15.24
9635427
SPG7 (16q24.3)
Paraplegin(M)
* Spastic paraplegia 7 - SPG7
Spastic paraplegia 9B, autosomal recessive - (AR)
15.25
26026163
ALDH18A1 (10q24.1)
Aldehyde deydrogenase 18 family, member A1 (M)
* Spastic paraplegia 9 - SPG9A
* Spastic paraplegia 9A, autosomal recessive - SPG9B
Spastic paraplegia 11, autosomal recessive - (AR)
15.26
10408536
16699786
17322883
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin
* Spastic paraplegia 11 - SPG11
* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X
* Amyotrophic lateral sclerosis 5 - ALS5
Spastic paraplegia 14, autosomal recessive - (AR)
15.27
10877981
? - (3q27-q28)
* Spastic paraplegia 14 - SPG14
Spastic paraplegia 15, autosomal recessive (Kjellin syndrome) - (AR)
15.28
11342696
17661097
18394578
ZFYVE26 (14q24.1)
Spastizin
* Spastic paraplegia 15 - SPG15
Spastic paraplegia 18, autosomal recessive - (AR)
15.29
16636240
21796390
23109145
ERLIN2 (8p12-p11.21)
ER lipid raft associated 2
* Spastic paraplegia 18 - SPG18
Spastic paraplegia 20, autosomal recessive (Troyer syndrome) - (AR)
15.30
12134148
SPG20 (13q12.3)
Spartin
* Spastic paraplegia 20 - SPG20
Spastic paraplegia 21, autosomal recessive (Mast syndrome) - (AR)
15.31
14564668
SPG21 (15q21-q22)
Maspardin
* Spastic paraplegia 20 - SPG21
Spastic paraplegia 23, autosomal recessive (Lison) - (AR)
15.32
14681889
? - (1q24-q32)
* Spastic paraplegia 23 - SPG23
Spastic paraplegia 24, autosomal recessive - (AR)
15.33
12499481
? - (13q14)
* Spastic paraplegia 24 - SPG24
Spastic paraplegia 25, autosomal recessive - (AR)
15.34
12070243
? - (6q23.3-q24.1)
* Spastic paraplegia 25 - SPG25
Spastic paraplegia 26, autosomal recessive - (AR)
15.35
15635080
23746551
B4GALNT1 (12q13.3)
Beta-1,4-N-acetyl-galactosaminyl transferase 1
* Spastic paraplegia 26 - SPG26
Spastic paraplegia 27, autosomal recessive - (AR)
15.36
15455396
? - (10q22.1-q24.1)
* Spastic paraplegia 27 - SPG27
Spastic paraplegia 28, autosomal recessive - (AR)
15.37
15786464
23176821
DDHD1 (14q21)
DDHD domain containing 1
* Spastic paraplegia 20 - SPG28
Spastic paraplegia 30, autosomal recessive - (AR)
15.38
16434418
21487076
KIF1A (2q37.3)
Kinesin family member 1A
* Neuropathy, hereditary sensory, type IIC - HSN2C
* Spastic paraplegia 30 - SPG30
Spastic paraplegia 32, autosomal recessive - (AR)
15.39
17515546
? - (14q12-q21)
* spastic paraplegia 32, autosomal recessive - SPG32
Spastic paraplegia 35, autosomal recessive - (AR)
15.40
18463364
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase
* Spastic paraplegia 35, autosomal recessive - SPG35
* Dysmyelinating leukodystrophy - FAHN
Spastic paraplegia 39, autosomal recessive - (AR)
15.41
18313024
PNPLA6 (19p13.3-p13.2)
Patatin-like phospholipase domain containing 6
* Spastic paraplegia 39, autosomal recessive - SPG39
Spastic paraplegia 43, autosomal recessive - (AR)
15.42
20039086
23857908
C19orf12 (19q12)
Chromosome 19 open reading frame 12(M)
* Spastic paraplegia 43, autosomal recessive - SPG43
* Neurodegeneration with brain iron accumulation 4 - NBIA4
Spastic paraplegia 44, autosomal recessive - (AR)
15.43
1905680
GJC2 (1q42.13)
gap junction protein, gamma 2, 47kDa
* Spastic paraplegia 44, autosomal recessive - SPG44
Spastic paraplegia 45, autosomal recessive - (AR)
15.44
19415352
24482476
NT5C2 (10q24-q32)
5'-nucleotidase, cytosolic II
* Spastic paraplegia 45, autosomal recessive - SPG45
Spastic paraplegia 46, autosomal recessive - (AR)
15.45
20593214
23332916
23332917
GBA2 (9p13.3)
Glucosidase, beta (bile acid) 2
* Spastic paraplegia 46, autosomal recessive - SPG46
Spastic paraplegia 47, autosomal recessive - (AR)
15.46
21440262
21620353
22290197
AP4B1 (1p13.2)
adaptor-related protein complex 4, beta 1 subunit
* Spastic paraplegia 47, autosomal recessive - SPG47
Spastic paraplegia 48, autosomal recessive - (AR)
15.47
20613862
AP5Z1 (7p22.2)
Hypothetical protein LOC9907 ?
* Spastic paraplegia 48, autosomal recessive - SPG48
Spastic paraplegia 49, autosomal recessive - (AR)
15.48
23176824
TECPR2 (14q32)
Tectonin beta-propeller repeat containing 2
* Spastic paraplegia 49, autosomal recessive - SPG49
Spastic paraplegia 50, autosomal recessive - (AR)
15.49
19559397
AP4M1 (7q22.1)
Adaptor-related protein complex 4, mu 1 subunit
* Spastic paraplegia 50, autosomal recessive - SPG50
Spastic paraplegia 51, autosomal recessive - (AR)
15.50
20972249
21620353
AP4E1 (15q21.2)
Adaptor-related protein complex 4, epsilon-1 subunit
* Spastic paraplegia 51, autosomal recessive - SPG51
Spastic paraplegia 52, autosomal recessive - (AR)
15.51
21620353
AP4S1 (14q12)
Adaptor-related protein complex 4, sigma 1 subunit
* Spastic paraplegia 52, autosomal recessive - SPG52
Spastic paraplegia 53, autosomal recessive - (AR)
15.52
22717650
VPS37A (8p22)
Vacuolar protein sorting-associated protein 37A
* Spastic paraplegia 53, autosomal recessive - SPG53
Spastic paraplegia 54, autosomal recessive - (AR)
15.53
16636240
23176823
23486545
DDHD2 (8p11.23)
DDHD domain containing protein 2
* Spastic paraplegia 54, autosomal recessive - SPG54
Spastic paraplegia 55, autosomal recessive - (AR)
15.54
23188110
24080142
C12orf65 (12q24.31)
Chomosome 12 open reading frame 65(M)
* Spastic paraplegia 55, autosomal recessive - SPG55
Spastic paraplegia 56, autosomal recessive - (AR)
15.55
23176821
CYP2U1 (4q25)
Cytochrome P450, family 2, subfamily U, polypeptide 1
* Spastic paraplegia 56, autosomal recessive - SPG56
Spastic paraplegia 57, autosomal recessive - (AR)
15.56
23479643
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
Spastic paraplegia 61, autosomal recessive - (AR)
15.57
-
ARL6IP1 (16p12.3)
ADP-ribosylation factor-like 6 interacting protein 1
* Spastic paraplegia 61, autosomal recessive - SPG61
Spastic paraplegia 62 autosomal recessive - (AR)
15.58
24482476
ERLIN1 (10q24.31)
Endoplasmic reticulum lipid raft-associated protein 1 (Erlin-1)
* Spastic paraplegia 62 autosomal recessive - SPG62
Spastic paraplegia 63, autosomal recessive - (AR)
15.59
24482476
AMPD2 (1p13.3)
Adenosine monophosphate deaminase 2
* Spastic paraplegia 63, autosomal recessive - SPG63
Spastic paraplegia 64, autosomal recessive - (AR)
15.60
24482476
ENTPD1 (10q24.1)
Ectonucleoside triphosphate diphosphohydrolase 1
* Spastic paraplegia 64, autosomal recessive - SPG64
Spastic paraplegia 72, autosomal recessive - (AR)
15.61
24388663
REEP2 (5q31.2)
Receptor expression-enhancing proten 2
* Spastic paraplegia 72, autosomal recessive - SPG72
* Spastic paraplegia 72, autosomal dominant - SPG72
Spastic paraplegia 74, autosomal recessive - (AR)
15.62
25609768
IBA57 (1q42.13)
IBA57 homolog, iron-sulfur cluster assembly (M)
* Spastic paraplegia 74, autosomal recessive - SPG74
Spastic paraplegia 75, autosomal recessive - (AR)
15.63
24482476
26179919
MAG (19q13.12)
Myelin associated glycoprotein
* Spastic paraplegia 75, autosomal recessive - SPG75
Spastic paraplegia 76, autosomal recessive - (AR)
15.64
27153400
CAPN1 (11q13.1)
Calpain 1
* Spastic paraplegia 76, autosomal recessive - SPG76
Spastic paraplegia 77, autosomal recessive - (AR)
15.65
26553276
FARS2 (6p25.1)
Phenylalanine-tRNA synthetase 2(M)
* Spastic paraplegia 77, autosomal recessive - SPG77
Spastic paraplegia 78, autosomal recessive
15.66
27217339
ATP13A2 (1q36.13)
ATPase, type 13A2(M)
* Spastic paraplegia 78, autosomal recessive - SPG78
Spastic paraplegia 79, autosomal recessive - (AR)
15.67
23359680
UCHL1 (4p13)
Ubiquitin Carboxyl-Terminal Esterase L1
* Spastic paraplegia 79, autosomal recessive - SPG79
Sjögren-Larsson syndrome - (AR)
15.68
7894487
8528251
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2
* Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2
* Fatty aldehyde dehydrogenase - FALDH
* Sjogren-Larsson syndrome - SLS
Infantile-onset ascending spastic paraplegia - (AR)
15.69
12145748
ALS2 (2q33.2)
Alsin Rho guanine nucleotide exchange factor 2
* Spastic paralysis, infantile onset ascending - IAHSP
* Amyotrophic lateral sclerosis, juvenile - ALS2
* Primary lateral sclerosis, juvenile - PLSJ
Spastic paraplegia, optic atrophy, and neuropathy - (AR)
15.70
26385635
KLC2 (11q13.2)
Kinesin light chain 2
* Spastic paraplegia, optic atrophy, and neuropathy - SPOAN
Spastic paraplegia and psychomotor retardation with or without seizures - (AR)
15.71
26424145
26437029
HACE1 (6q16.3)
Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1
* Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS

C) Spastic paraplegias, X-linked
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
MASA syndrome - (XR)
15.72
3460961
7920659
L1CAM (Xq28)
L1 cell adhesion molecule
* CRASH syndrome - L1CAM
* CRASH syndrome - HSAS
* MASA syndrome - L1CAM
* Hydrocephalus with Hirschspung disease and cleft palate - HSCR
Spastic paraplegia 2, X-linked - (XR)
15.73
3479019
7522741
8012387
PLP1 (Xq22)
Proteolipid protein 1
* Spastic paraplegia 2 - SPG2
Spastic paraplegia 16, X-linked, complicated - (XR)
15.74
9254866
? - (Xq11.2-q23)
* Spastic paraplegia 16 - SPG16
Spastic paraplegia 34, X-linked - (XLR)
15.75
18463901
? - (Xq24-q25)
* Spastic paraplegia 34, X-linked - SPG34

D) Spastic ataxias
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
Spastic ataxia 1 - (AD)
15.76
11774073
22958904
VAMP1 (12p13)
Vesicle associated membrane protein (synaptobrevin 1)
* ataxia, spastic, 1, autosomal dominant - SPAX1
* Presynaptic congenital myasthenic syndrome 25 - CMS25
Spastic ataxia 2 - (AR)
15.77
17273843
24319291
24482476
KIF1C (17p13.2)
kinesin family member 1C
* ataxia, spastic, 2, autosomal recessive - SPAX2
Spastic ataxia 3 with leukoencephalopathy - (AR)
15.78
16672289
22448145
MARS2 (2q33-34)
Methionyl-tRNA synthetase 2, mitochondrial(M)
* autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL
Spastic ataxia 4 autosomal recessive - (AR)
15.79
20970105
MTPAP (10p12.1)
Mitochondrial poly(A) polymerase(M)
* Spastic ataxia 4 autosomal recessive - SPAX4
Spastic ataxia 5 autosomal recessive - (AR)
15.80
22022284
AFG3L2 (18p11-q11)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)
* Spinocerebellar ataxia 28 - SCA28
* Spastic ataxia 5 autosomal recessive - SPAX5
Spastic ataxia Charlevoix-Saguenay type - (AR)
15.81
10610707
10655055
9829277
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
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy - (AR)
15.82
28575651
NKX6-2 (10q26.3)
NK6 homeobox 2
* Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy - SPAX8
Spastic ataxia 9, autosomal recessive - (AR)
15.83
29379881
CHP1 (15q15.1)
Calcineurin-like EF-hand protein 1
* Spastic ataxia 9, autosomal recessive - SPAX9
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