Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
SACS
sacsin
13q12
 | Spastic ataxia, Charlevoix-Saguenay type -SACS |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay -ARSACS |
SBF2
SET binding factor 2
11p15.4
| charcot-marie-tooth disease, type 4b2 -CMT4B2 |
SCN4A
sodium channel, voltage-gated, type IV, alpha
17q23-q25.3
| Paramyotonia congenita of Von Eulenburg -PMC |
| Hypokalemic periodic paralysis -hypoKPP |
| Hypokalemic periodic paralysis type2 -hypoKPP2 |
| Hyperkalemic periodic paralysis -hyperKPP |
| Potassium-aggravated myotonia - |
| Myotonia congenita, atypical, acetazolamide-responsive -SCN4A |
SCN5A
voltage-gated sodium channel type V alpha
3p21
| Cardiac conduction defect, progressive -PCCD |
| Hereditary bundle branch system defect -HBBD |
| Progressive familial heart block, type I -PFHBI |
| Brugada syndrome -SCN5A |
| Cardiomyopathy, dilated, 1E -CMD1E |
| Ventricular fibrillation, idiopathic -IVF |
| Ventricular fibrillation, paroxysmal familial -VF |
| Long QT syndrome-3 -LQT3 |
| Sick Sinus Syndrome 1, autosomal recessive -SSS1 |
SEPN1
Selenoprotein N1
1p36.13
| myopathy, congenital, with fiber-type disproportion -CFTD |
| Minicore myopathy with external ophthalmoplegia - |
| Muscular dystrophy, rigid spine, 1 -MDRS1 |
| Rigid spine syndrome -RSS |
| Minicore myopathy, severe classic form -RSMD1 |
| Desmin-related myopathy with Mallory bodies -RSMD1 |
SEPT9
17q25
| Familial brachial plexus neuropathy -HNA |
SETX
senataxin
9q34.13
| Neuropathy, distal hereditary motor, with pyramidal features -ALS4 |
| Spinocerebellar ataxia, autosomal recessive 1 -SCAR1 |
SGCA
alpha sarcoglycan
17q21
| Adhalinopathy, primary -ADL |
| Muscular dystrophy, limb-girdle, type 2D -LGMD2D |
SGCB
beta sarcoglycan
4q12
| Muscular dystrophy, limb-girdle, type 2E -LGMD2E |
SGCD
delta-sarcoglycan
5q33-q34
| Muscular dystrophy, limb-girdle, type 2F -LGMD2F |
| Cardiomyopathy, dilated, 1L -CMD1L |
| Cardiomyopathy, dilated, 1L -CMD1L |
SGCE
sarcoglycan, epsilon
7q21-q22
| Myoclonus-dystonia syndrome -DYT11 |
SGCG
gamma sarcoglycan
13q12
| Muscular dystrophy, limb-girdle, type 2C -LGMD2C |
SH3TC2
KIAA1985 protein
5q32
| Charcot-Marie-Tooth neuropathy Type 4F -CMT4C |
SIL1
SIL1 homolog, endoplasmic reticulum chaperone
5q31
| Marinesco-Sjogren syndrome -MSS |
SLC12A6
potassium chloride cotransporter KCC3
15q13-q15
| Agenesis of the corpus callosum with peripheral neuropathy -ACCPN |
| Charlevoix disease -SLC12A6 |
| Andermann syndrome -SLC12A6 |
SLC1A3
EAAT1 (excitatory amino acid transporter type 1)
5p13
| episodic ataxia type 6 -EA6 |
SLC22A5
solute carrier family 22 member 5
5q31
| Carnitine deficiency, systemic primary -CDSP |
SLC25A20
carnitine-acylcarnitine translocase
3p21.31
| Carnitine-acylcarnitine translocase deficiency -CACT |
SLC25A4
mitochondrial carrier; adenine nucleotide translocator
4q35
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal -PEOA2 |
SMN1
survival of motor neuron 1, telomeric
5q13
| Spinal muscular atrophy 1 -SMA1 |
| Spinal muscular atrophy 3 -SMA3 |
| Kugelberg-Welander Syndrome -KWS |
| Spinal muscular atrophy 2 -SMA2 |
| Spinal muscular atrophy 4 -SMA4 |
SOD1
superoxide dismutase 1, soluble
21q22.1
| Amyotrophic lateral sclerosis, due to SOD1 deficiency -ALS |
| Amyotrophic lateral sclerosis 1 -ALS1 |
SPAST
spastin
2p24-p21
| Spastic paraplegia 4 -SPG4 |
| Familial spastic paraplegia, autosomal dominant, 2 -FSP2 |
SPG11
spatacsin
15q14
| Spastic paraplegia 11 -SPG11 |
SPG20
spartin
13q12.3
| Spastic paraplegia 20 -SPG20 |
SPG21
maspardin
15q21-q22
| Spastic paraplegia 20 -SPG21 |
SPG3A
atlastin
14q22.1
| Spastic paraplegia 3A -SPG3A |
| Familial spastic paraplegia, autosomal dominant, 1 -FSP1 |
SPG7
paraplegin
16q24.3
| Spastic paraplegia 7 -SPG7 |
SPTBN2
spectrin, beta, non-erythrocytic 2
11q13
| Spinocerebellar ataxia 5 -SCA5 |
SPTLC1
serine palmitoyltransferase subunit 1
9q22.2
| Neuropathy, hereditary sensory and autonomic, type 1 -HSAN1 |
| Neuropathy, hereditary sensory, type 1 -HSN1 |
SUCLA2
succinate-CoA ligase, ADP-forming, beta subunit
13q12.2-q13.3
| Mitochondrial dna depletion syndrome, myopathic form -MDDS4 |
SYNE1
spectrin repeat containing, nuclear envelope 1 (nesprin 1)
6q25
| Spinocerebellar ataxia, autosomal recessive 8 -SCAR8 |
| cerebellar ataxia, autosomal recessive, type 1 -ARCA1 |
| Emery-dreifuss muscular dystrophy 4 -EDMD4 |
SYNE2
spectrin repeat containing, nuclear envelope 2 (nesprin 2)
14q23.2
| Emery-dreifuss muscular dystrophy 5 -EDMD5 |