Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SACS
sacsin
 
 | 13q12 |  * Spastic ataxia, Charlevoix-Saguenay type - SACS (13.54, 15.46)
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.54, 15.46)
|
SBF2
SET binding factor 2
| 11p15.4 | * charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.17)
|
SCN4A
sodium channel, voltage-gated, type IV, alpha
| 17q23-q25.3 | * Sodium-channel myasthenia - (7.3, 7.4, 7.5, 7.6, 11.20)
* Paramyotonia congenita of Von Eulenburg - PMC (7.3, 7.4, 7.5, 7.6, 11.20)
* Hyperkalemic periodic paralysis - HYPP (7.3, 7.4, 7.5, 7.6, 11.20)
* Potassium-aggravated myotonia - (7.3, 7.4, 7.5, 7.6, 11.20)
* Myotonia potassium-aggravatd - (7.3, 7.4, 7.5, 7.6, 11.20)
* Hyperkalemic periodic paralysis, type 2 - HOKPP2 (7.3, 7.4, 7.5, 7.6, 11.20)
|
SCN5A
voltage-gated sodium channel type V alpha
| 3p21 | * Progressive familial heart block, type I - PFHBI (7.7, 10.111, 10.116, 10.31, 10.89)
* Hereditary bundle branch system defect - HBBD (7.7, 10.111, 10.116, 10.31, 10.89)
* Cardiac conduction defect, progressive - PCCD (7.7, 10.111, 10.116, 10.31, 10.89)
* Brugada syndrome - SCN5A (7.7, 10.111, 10.116, 10.31, 10.89)
* Cardiomyopathy, dilated, 1E - CMD1E (7.7, 10.111, 10.116, 10.31, 10.89)
* Ventricular fibrillation, idiopathic - IVF (7.7, 10.111, 10.116, 10.31, 10.89)
* Ventricular fibrillation, paroxysmal familial - VF (7.7, 10.111, 10.116, 10.31, 10.89)
* Long QT syndrome-3 - LQT3 (7.7, 10.111, 10.116, 10.31, 10.89)
* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (7.7, 10.111, 10.116, 10.31, 10.89)
|
SEPN1
Selenoprotein N1
| 1p36.13 | * myopathy, congenital, with fiber-type disproportion - CFTD (2.14, 3.10, 3.21, 5.3)
* Multiminicore disease, classical form - (2.14, 3.10, 3.21, 5.3)
* Rigid spine syndrome - RSS (2.14, 3.10, 3.21, 5.3)
* Desmin-related myopathy with Mallory bodies - RSMD1 (2.14, 3.10, 3.21, 5.3)
* Muscular dystrophy, rigid spine, 1 - MDRS1 (2.14, 3.10, 3.21, 5.3)
|
SEPT9
septin 9
| 17q25 | * Familial brachial plexus neuropathy - HNA (14.64)
|
SETX
senataxin
| 9q34.13 | * Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.25, 13.41)
* ATAXIA-oculomotor apraxia 2 - AOA2 (12.25, 13.41)
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.25, 13.41)
|
SGCA
alpha sarcoglycan
| 17q21 | * Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.22)
|
SGCB
beta sarcoglycan
| 4q12 | * Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.23)
|
SGCD
delta-sarcoglycan
| 5q33-q34 | * Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.24, 10.38)
* Dilated Cardiomyopathy, 1L - CMD1L (1.24, 10.38)
|
SGCE
sarcoglycan, epsilon
| 7q21-q22 | * Myoclonus-dystonia syndrome - DYT11 (16.2)
|
SGCG
gamma sarcoglycan
| 13q12 | * Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.21)
|
SH3TC2
KIAA1985 protein
| 5q32 | * Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.18)
|
SIL1
SIL1 homolog, endoplasmic reticulum chaperone
| 5q31 | * Marinesco-Sjogren syndrome - MSS (13.50)
|
SLC12A6
potassium chloride cotransporter KCC3
| 15q13-q15 | * Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.63)
* Charlevoix disease - SLC12A6 (14.63)
* Andermann syndrome - SLC12A6 (14.63)
|
SLC1A3
EAAT1 (excitatory amino acid transporter type 1)
| 5p13 | * episodic ataxia type 6 - EA6 (13.33)
|
SLC22A5
solute carrier family 22 member 5
| 5q31 | * Carnitine deficiency, systemic primary - CDSP (9.16)
|
SLC25A20
carnitine-acylcarnitine translocase
| 3p21.31 | * Carnitine-acylcarnitine translocase deficiency - CACT (9.17)
|
SLC25A4
mitochondrial carrier; adenine nucleotide translocator
| 4q35 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.17)
|
SLC33A1
acetyl-Coenzyme A transporter
acetyl-Coenzyme A transporter
solute carrier family 33 (acetyl- CoA transporter)
| 3q25.3 | * Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
|
SMN1
survival of motor neuron 1, telomeric
| 5q13 | * Spinal muscular atrophy 1 - SMA1 (12.1, 12.2, 12.3, 12.4)
* Kugelberg-Welander Syndrome - KWS (12.1, 12.2, 12.3, 12.4)
* Spinal muscular atrophy 3 - SMA3 (12.1, 12.2, 12.3, 12.4)
* Spinal muscular atrophy 2 - SMA2 (12.1, 12.2, 12.3, 12.4)
* Spinal muscular atrophy 4 - SMA4 (12.1, 12.2, 12.3, 12.4)
|
SOD1
superoxide dismutase 1, soluble
| 21q22.1 | * Amyotrophic lateral sclerosis 1 - ALS1 (12.21, 12.22)
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.21, 12.22)
|
SPAST
spastin
| 2p24-p21 | * Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2)
* Spastic paraplegia 4 - SPG4 (15.2)
|
SPG11
spatacsin
| 15q14 | * Spastic paraplegia 11 - SPG11 (15.21)
|
SPG20
spartin
| 13q12.3 | * Spastic paraplegia 20 - SPG20 (15.25)
|
SPG21
maspardin
| 15q21-q22 | * Spastic paraplegia 20 - SPG21 (15.26)
|
SPG3A
atlastin
| 14q22.1 | * Spastic paraplegia 3A - SPG3A (15.1)
* Familial spastic paraplegia, autosomal dominant, 1 - FSP1 (15.1)
|
SPG7
paraplegin
| 16q24.3 | * Spastic paraplegia 7 - SPG7 (15.20)
|
SPTBN2
spectrin, beta, non-erythrocytic 2
| 11q13 | * Spinocerebellar ataxia 5 - SCA5 (13.5)
|
SPTLC1
serine palmitoyltransferase subunit 1
| 9q22.2 | * Neuropathy, hereditary sensory, type 1 - HSN1 (14.53)
* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (14.53)
|
SPTLC2
serine palmitoyltransferase long chain base subunit 2
| 14q24.3 | * Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.55)
|
SUCLA2
succinate-CoA ligase, ADP-forming, beta subunit
| 13q12.2-q13.3 | * Mitochondrial dna depletion syndrome, myopathic form - MDDS4 (16.22)
|
SYNE1
spectrin repeat containing, nuclear envelope 1 (nesprin 1)
| 6q25 | * Dilated cardiomyopathy with nesprin-1 defect - (1.6, 10.64, 13.47, 16.14)
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.6, 10.64, 13.47, 16.14)
* Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.6, 10.64, 13.47, 16.14)
|
SYNE2
spectrin repeat containing, nuclear envelope 2 (nesprin 2)
| 14q23.2 | * Nesprin-2 related muscular dystrophy - EDMD (1.7)
|