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 (13.90, 14.92, 15.81)
* Charcot-Marie-Tooth disease, axonal; related to SACS - (13.90, 14.92, 15.81)
* Spastic ataxia, Charlevoix-Saguenay type - SACS (13.90, 14.92, 15.81)
* Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.90, 14.92, 15.81)

SBF1
SET binding factor 1



22q13.33
* Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.24)

SBF2
SET binding factor 2



11p15.4
* charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.23)

SCN11A
Sodium voltage-gated channel alpha subunit 11



3p22.2
* Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.104, 14.114)
* Episodic pain syndrome, familial 3 - FEPS3 (14.104, 14.114)

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



19q13.11
* Atrial fibrillation, 13 - ATFB13 (10.157, 10.167)
* Brugada syndrome 5 - BRGDA5 (10.157, 10.167)

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



11q23.3
* Atrial fibrillation, 14 - ATFB14 (10.158)

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



11 q24.1
* Atrial fibrillation, 16 - ATFB16 (10.160, 10.169)
* Brugada syndrome 7 - BRGDA7 (10.160, 10.169)

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



17q23-q25.3
* Hyperkalemic periodic paralysis - HYPP (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.32)
* Myotonia potassium-aggravatd - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.32)
* Sodium-channel myasthenia - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.32)
* Myasthenic syndrome, acetazolamide-responsive - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.32)
* Congenital Myopathy related to SCN4A - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.32)
* Severe foetal hypokinesia related to SCN4A - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.32)
* Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.32)
* Paramyotonia congenita of Von Eulenburg - PMC (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.32)
* Potassium-aggravated myotonia - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.32)

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



11q23.3
* Atrial fibrillation, 17 - ATFB17 (10.132, 10.161)
* Long QT syndrome 10 - LQT10 (10.132, 10.161)

SCN5A
Voltage-gated sodium channel type V alpha



3p22.2
* Progressive familial heart block, type I - PFHBI (10.125, 10.153, 10.163, 10.174, 10.41)
* Cardiomyopathy, dilated, 1E - CMD1E (10.125, 10.153, 10.163, 10.174, 10.41)
* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (10.125, 10.153, 10.163, 10.174, 10.41)
* Ventricular fibrillation, idiopathic - IVF (10.125, 10.153, 10.163, 10.174, 10.41)
* Ventricular fibrillation, paroxysmal familial - VF (10.125, 10.153, 10.163, 10.174, 10.41)
* Hereditary bundle branch system defect - HBBD (10.125, 10.153, 10.163, 10.174, 10.41)
* Cardiac conduction defect, progressive - PCCD (10.125, 10.153, 10.163, 10.174, 10.41)
* Brugada syndrome - SCN5A (10.125, 10.153, 10.163, 10.174, 10.41)
* Atrial fibrillation, 10 - ATFB10 (10.125, 10.153, 10.163, 10.174, 10.41)
* Long QT syndrome-3 - LQT3 (10.125, 10.153, 10.163, 10.174, 10.41)

SCN9A
Sodium voltage-gated channel alpha subunit 9



2q24.3
* Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.113, 14.99)
* Erythromelalgia, Primary - SFNP (14.113, 14.99)

SCO2
Cytochrome c oxidase assembly protein(M)



22q13.33
* Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 - CEMCOX1 (10.35, 14.91)
* Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.35, 14.91)

SCYL1
SCY1 like pseudokinase 1



11q13.1
* Spinocerebellar ataxia, autosomal recessive 21 - SCAR21 (13.74)

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



5p15
* Recessive neonatal isolated DC - (10.68)
* Cardiomyopathy, dilated, 1GG - CMD1GG (10.68)

SELENON
Selenoprotein N1



1p36.13
* Multiminicore disease, classical form - (2.13, 3.15, 3.31, 5.12)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.15, 3.31, 5.12)
* Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.15, 3.31, 5.12)
* Rigid spine syndrome - RSMD1 (2.13, 3.15, 3.31, 5.12)
* Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.15, 3.31, 5.12)
* Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.15, 3.31, 5.12)

SEPT9
Septin 9



17q25
* Familial brachial plexus neuropathy - HNA (14.118)

SETX
Senataxin



9q34.13
* Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.47, 13.83)
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.47, 13.83)
* Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2 (12.47, 13.83)

SGCA
Alpha sarcoglycan



17q21
* Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.27)

SGCB
Beta sarcoglycan



4q12
* Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.28)

SGCD
Delta-sarcoglycan



5q33-q34
* Dilated Cardiomyopathy, 1L - CMD1L (1.30, 10.47)
* Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.30, 10.47)

SGCE
Sarcoglycan, epsilon



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

SGCG
Gamma sarcoglycan



13q12
* Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.29)

SGPL1
Sphingosine-1-Phosphate Lyase 1



10q22.1
* Charcot-Marie-Tooth disease, axonal - (14.90)

SH3TC2
KIAA1985 protein



5q32
* Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.25)

SIGMAR1
Sigma non-opioid intracellular receptor 1



9p13.3
* spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.6, 12.59)
* Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.6, 12.59)

SIL1
SIL1 homolog, endoplasmic reticulum chaperone



5q31
* Marinesco-Sjogren syndrome - MSS (13.85)

SLC12A6
Potassium chloride cotransporter KCC3



15q13-q15
* Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.116)
* Charlevoix disease - SLC12A6 (14.116)
* Andermann syndrome - SLC12A6 (14.116)

SLC16A1
Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)



1p13.2
* Erythrocyte lactate transporter defect - (9.17)

SLC18A3
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3



10q11.2
* Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21 (11.27)

SLC1A3
EAAT1 (excitatory amino acid transporter type 1)



5p13
* episodic ataxia type 6 - EA6 (13.48)

SLC22A5
Solute carrier family 22 member 5



5q31
* Carnitine deficiency, systemic primary - CDSP (9.19)

SLC25A1
Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1



22q11.21
* Presynaptic congenital myasthenic syndrome 23 - CMS23 (11.29)

SLC25A20
Carnitine-acylcarnitine translocase(M)



3p21.31
* Carnitine-acylcarnitine translocase deficiency - CACT (9.20)

SLC25A4
Mitochondrial carrier; adenine nucleotide translocator(M)



4q35
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.34, 16.54, 16.55)
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.34, 16.54, 16.55)
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.34, 16.54, 16.55)

SLC25A42
Solute carrier family 25 member 42(M)



19p13.11
* Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.58)
* Mitochondrial myopathy - (16.58)

SLC25A46
solute carrier family 25 member 46



5q22.1
* Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.90)

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 (12.92)

SLC52A3
Solute carrier family 52, riboflavin transporter, member 3



20p13
* Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.91)

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



2q12.31
* Motor neuropathy, distal, with vocal cord paralysis - HMN7 (11.26, 12.26)
* Congenital myasthenic syndrome with episodic apnea - CMS20 (11.26, 12.26)

SLC9A1
Solute carrier family 9, member 1



1p36.11
* Spinocerebellar ataxia, autosomal recessive 19 - SCAR19 (13.72)

SLC9A3R1
Solute carrier family 9, member 3, regulator 1



17q25.1
* Hereditary peripheral neuropathy - (14.125)

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)

SMPD4
Sphingomyelin phosphodiesterase 4, neutral membrane



2q21.1
* Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA (16.25)

SNAP25
Synaptosome associated protein 25



20p12.2
* Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.24)

SNTA1
Syntrophin, alpha 1



20q11.21
* Long QT syndrome 12 - LQT12 (10.134)

SNX14
sorting nexin 14



6q14.3
* Spinocerebellar ataxia, autosomal recessive 20 - SCAR20 (13.73)

SOD1
Superoxide dismutase 1, soluble



21q22.1
* Amyotrophic lateral sclerosis 1 - ALS1 (12.43, 12.44)
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.43, 12.44)

SORD
Sorbitol Dehydrogenase



15q21.1
* Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD (14.93)

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 - (3.26)

SPG11
SPG11 vesicle trafficking associated, Spatacsin



15q21.1
* Spastic paraplegia 11 - SPG11 (12.48, 14.88, 15.26)
* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.48, 14.88, 15.26)
* Amyotrophic lateral sclerosis 5 - ALS5 (12.48, 14.88, 15.26)

SPG20
Spartin



13q12.3
* Spastic paraplegia 20 - SPG20 (15.30)

SPG21
Maspardin



15q21-q22
* Spastic paraplegia 20 - SPG21 (15.31)

SPG7
Paraplegin(M)



16q24.3
* Spastic paraplegia 7 - SPG7 (15.24)

SPTAN1
Spectrin, alpha, nonerythrocytic 1



9q34.11
* Distal motor neuropathy - (12.38)

SPTBN2
Spectrin, Beta, Nonerythrocytic, 2



11q13.2
* Spinocerebellar ataxia 5 - SCA5 (13.5, 13.67)
* Spinocerebellar ataxia, autosomal recessive 14 - SCAR14 (13.5, 13.67)

SPTBN4
Spectrin, Beta, Nonerythrocytic, 4



19q13
* Myopathy, Congenital, With Neuropathy And Deafness - CMND (3.49)

SPTLC1
Serine palmitoyltransferase subunit 1



9q22.2
* Neuropathy, hereditary sensory, type 1 - HSN1 (14.94)
* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (14.94)

SPTLC2
Serine palmitoyltransferase long chain base subunit 2



14q24.3
* Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.96)

SQSTM1
Sequestosome 1



5q35.3
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.8, 4.21, 12.74)
* Myopathy, distal, with rimmed vacuoles - DMRV (4.8, 4.21, 12.74)
* Welander-like distal myopathy - (4.8, 4.21, 12.74)

STAC3
SH3 and cysteine rich domain 3



12q13.3
* Myopathy, congenital, Bailey-Bloh - MYPBB (3.52, 3.53)
* Myopathy, congenital, with malignant hyperthermia susceptibility - (3.52, 3.53)

STIM1
Stromal interaction molecule 1



11p15.4
* Tubular aggregate myopathy 1 - TAM1 (5.33)

STUB1
STIP1 homology and U-box containing protein 1



16p13.3
* Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.44, 13.69)
* Spinocerebellar ataxia 48 - SCA48 (13.44, 13.69)

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



13q12.2-q13.3
* Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 (16.49)

SUCLG1
Succinate-CoA ligase, alpha subunit(M)



2p11.2
* Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.52)

SURF1
Surfeit 1(M)



9q34.2
* Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.33)

SVIL
Supervillin



10p11.23
* Myofibrillar myopathy 10 - MFM10 (5.11)

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



6q25
* Dilated cardiomyopathy related to nesprin-1 - (1.6, 10.82, 13.61, 16.21)
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.6, 10.82, 13.61, 16.21)
* Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.6, 10.82, 13.61, 16.21)
* Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM (1.6, 10.82, 13.61, 16.21)

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



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

SYT14
Synaptotagmin 14



1q32.2
* Spinocerebellar ataxia, autosomal recessive 11 - SCAR11 (13.64)

SYT2
Synaptotagmin II



1q32.1
* Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.13, 12.37)
* Distal motor neuropathy related to SYT2 - (11.13, 12.37)
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