Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

SACS
Sacsin



13q12
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.65, 15.72)
* Spastic ataxia 6 autosomal recessive Charlevoix-Saguenay type - SPAX6 (13.65, 15.72)

SBF1
SET binding factor 1



22q13.33
* Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.20)

SBF2
SET binding factor 2



11p15.4
* charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.19)

SCN11A
sodium voltage-gated channel alpha subunit 11



3p22.2
* Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.89)

SCN1B
Sodium channel, voltage-gated, type I, beta subunit



19q13.12
* Atrial fibrillation, 13 - ATFB13 (10.131, 10.138)
* Brugada syndrome 5 - BRGDA5 (10.131, 10.138)

SCN2B
Sodium channel, voltage-gated, type II, beta subunit



11q23.3
* Atrial fibrillation, 14 - ATFB14 (10.132)

SCN3B
Sodium channel, voltage-gated, type III, beta subunit



11 q24.1
* Brugada syndrome 7 - BRGDA7 (10.140)

SCN4A
Sodium channel, voltage-gated, type IV, alpha



17q23-q25.3
* Hyperkalemic periodic paralysis - HYPP (7.3, 7.4, 7.5, 7.6, 11.20)
* Myotonia potassium-aggravatd - (7.3, 7.4, 7.5, 7.6, 11.20)
* Sodium-channel myasthenia - (7.3, 7.4, 7.5, 7.6, 11.20)
* Myasthenic syndrome, acetazolamide-responsive - (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)
* Paramyotonia congenita of Von Eulenburg - PMC (7.3, 7.4, 7.5, 7.6, 11.20)
* Potassium-aggravated myotonia - (7.3, 7.4, 7.5, 7.6, 11.20)

SCN4B
Sodium channel, voltage-gated, type IV, beta subunit



11q23.3
* Long QT syndrome 10 - LQT10 (10.111)

SCN5A
Voltage-gated sodium channel type V alpha



3p21
* Progressive familial heart block, type I - PFHBI (7.7, 10.104, 10.134, 10.141, 10.35)
* Cardiomyopathy, dilated, 1E - CMD1E (7.7, 10.104, 10.134, 10.141, 10.35)
* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (7.7, 10.104, 10.134, 10.141, 10.35)
* Ventricular fibrillation, idiopathic - IVF (7.7, 10.104, 10.134, 10.141, 10.35)
* Ventricular fibrillation, paroxysmal familial - VF (7.7, 10.104, 10.134, 10.141, 10.35)
* Hereditary bundle branch system defect - HBBD (7.7, 10.104, 10.134, 10.141, 10.35)
* Cardiac conduction defect, progressive - PCCD (7.7, 10.104, 10.134, 10.141, 10.35)
* Brugada syndrome - SCN5A (7.7, 10.104, 10.134, 10.141, 10.35)
* Long QT syndrome-3 - LQT3 (7.7, 10.104, 10.134, 10.141, 10.35)

SCN9A
sodium voltage-gated channel alpha subunit 9



2q24.3
* Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.84)

SDHA
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



5p15
* Recessive neonatal isolated DC - (10.71)
* Cardiomyopathy, dilated, 1GG - CMD1GG (10.71)

SEPN1
Selenoprotein N1



1p36.13
* Multiminicore disease, classical form - (2.13, 3.12, 3.26, 5.3)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.12, 3.26, 5.3)
* Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.12, 3.26, 5.3)
* Rigid spine syndrome - RSMD1 (2.13, 3.12, 3.26, 5.3)
* Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.12, 3.26, 5.3)
* Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.12, 3.26, 5.3)

SEPT9
Septin 9



17q25
* Familial brachial plexus neuropathy - HNA (14.95)

SETX
Senataxin



9q34.13
* ATAXIA-oculomotor apraxia 2 - AOA2 (12.40, 13.51)
* Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.40, 13.51)
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.40, 13.51)

SGCA
Alpha sarcoglycan



17q21
* Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.24)

SGCB
Beta sarcoglycan



4q12
* Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.25)

SGCD
Delta-sarcoglycan



5q33-q34
* Dilated Cardiomyopathy, 1L - CMD1L (1.26, 10.41)
* Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.26, 10.41)

SGCE
Sarcoglycan, epsilon



7q21-q22
* Myoclonus-dystonia syndrome - DYT11 (16.2)

SGCG
Gamma sarcoglycan



13q12
* Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.23)

SH3TC2
KIAA1985 protein



5q32
* Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.21)

SIGMAR1
Sigma non-opioid intracellular receptor 1



9p13.3
* Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.54)

SIL1
SIL1 homolog, endoplasmic reticulum chaperone



5q31
* Marinesco-Sjogren syndrome - MSS (13.61)

SLC12A6
Potassium chloride cotransporter KCC3



15q13-q15
* Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.93)
* Charlevoix disease - SLC12A6 (14.93)
* Andermann syndrome - SLC12A6 (14.93)

SLC1A3
EAAT1 (excitatory amino acid transporter type 1)



5p13
* episodic ataxia type 6 - EA6 (13.43)

SLC22A5
Solute carrier family 22 member 5



5q31
* Carnitine deficiency, systemic primary - CDSP (9.17)

SLC25A20
Carnitine-acylcarnitine translocase(M)



3p21.31
* Carnitine-acylcarnitine translocase deficiency - CACT (9.18)

SLC25A4
Mitochondrial carrier; adenine nucleotide translocator(M)



4q35
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.17)

SLC25A42
solute carrier family 25 member 42(M)



19p13.11
* Mitochondrial myopathy - (16.24)

SLC33A1
Solute carrier family 33 (acetyl- CoA transporter)



3q25.3
* Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)

SLC52A2
Solute carrier family 52, riboflavin transporter, member 2



8q24
* Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.72)

SLC52A3
Solute carrier family 52, riboflavin transporter, member 3



20p13
* Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.71)

SLC5A7
Solute carrier family 5 (sodium/choline cotransporter), member 7



2q12.31
* Motor neuropathy, distal, with vocal cord paralysis - HMN7 (11.30, 12.17)
* Congenital myasthenic syndrome with episodic apnea - CMS20 (11.30, 12.17)

SMCHD1
Structural maintenance of chromosomes flexible hinge domain containing 1



18p11.32
* Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B (1.11)

SMN1
Survival of motor neuron 1, telomeric



5q13
* Kugelberg-Welander Syndrome - KWS (12.1, 12.2, 12.3, 12.4)
* Spinal muscular atrophy 4 - SMA4 (12.1, 12.2, 12.3, 12.4)
* Spinal muscular atrophy 2 - SMA2 (12.1, 12.2, 12.3, 12.4)
* Spinal muscular atrophy 3 - SMA3 (12.1, 12.2, 12.3, 12.4)
* Spinal muscular atrophy 1 - SMA1 (12.1, 12.2, 12.3, 12.4)

SNAP25
synaptosome associated protein 25



20p12.2
* Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.28)

SNTA1
Syntrophin, alpha 1



20q11.21
* Long QT syndrome 12 - LQT12 (10.113)

SOD1
Superoxide dismutase 1, soluble



21q22.1
* Amyotrophic lateral sclerosis 1 - ALS1 (12.36, 12.37)
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.36, 12.37)

SPAST
Spastin



2p24-p21
* Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2)
* Spastic paraplegia 4 - SPG4 (15.2)

SPEG
SPEG complex locus



2q35
* Centronuclear myopathy with dilated cardiomyopathy - (3.22)

SPG11
Spatacsin



15q21.1
* Spastic paraplegia 11 - SPG11 (12.41, 14.61, 15.22)
* Amyotrophic lateral sclerosis 5 - ALS5 (12.41, 14.61, 15.22)
* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.41, 14.61, 15.22)

SPG20
Spartin



13q12.3
* Spastic paraplegia 20 - SPG20 (15.26)

SPG21
Maspardin



15q21-q22
* Spastic paraplegia 20 - SPG21 (15.27)

SPG7
Paraplegin(M)



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 (14.76)
* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (14.76)

SPTLC2
Serine palmitoyltransferase long chain base subunit 2



14q24.3
* Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.78)

SQSTM1
Sequestosome 1



5q35.3
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (12.64)

STIM1
Stromal interaction molecule 1



11p15.4
* Tubular aggregate myopathy 1 - TAM1 (16.26)

STUB1
STIP1 homology and U-box containing protein 1



16p13.3
* Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.59)

SUCLA2
Succinate-CoA ligase, ADP-forming, beta subunit(M)



13q12.2-q13.3
* Mitochondrial dna depletion syndrome, myopathic form - MDDS4 (16.22)

SURF1
surfeit 1(M)



9q34.2
* Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.29)

SYNE1
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



6q25
* Dilated cardiomyopathy related to nesprin-1 - (1.6, 10.67, 13.57, 16.14)
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.6, 10.67, 13.57, 16.14)
* Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.6, 10.67, 13.57, 16.14)

SYNE2
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



14q23.2
* Nesprin-2 related muscular dystrophy - EDMD (1.7)

SYT2
Synaptotagmin II



1q32.1
* Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.25)