Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
| 13q12 | * Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.102, 14.100, 15.93) * Charcot-Marie-Tooth disease, axonal; related to SACS - (13.102, 14.100, 15.93) * Spastic ataxia, Charlevoix-Saguenay type - SACS (13.102, 14.100, 15.93) * Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.102, 14.100, 15.93)
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SAMD9LSterile Alpha Motif Domain-Containing Protein 9-Like | 7q21.2 | * Spinocerebellar ataxia 49 - SCA49 (13.46, 13.56) * Ataxia-pancytopenia syndrome - ATXPC (13.46, 13.56)
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SARS1Seryl-tRNA synthetase 1 | 1p13.3 | * Charcot-Marie-Tooth disease, intermediate, related to SARS1 - (14.27)
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| 22q13.33 | * Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.31)
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| 11p15.4 | * charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.30)
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SCN11ASodium voltage-gated channel alpha subunit 11 | 3p22.2 | * Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.116, 14.126) * Episodic pain syndrome, familial 3 - FEPS3 (14.116, 14.126)
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SCN1BSodium channel, voltage-gated, type I, beta subunit | 19q13.11 | * Atrial fibrillation, 13 - ATFB13 (10.170, 10.181) * Brugada syndrome 5 - BRGDA5 (10.170, 10.181)
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SCN2ASodium voltage-gated channel, alpha subunit 2; SCN2A | 2q24.3 | * Episodic ataxia type-9 - EA9 (13.53)
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SCN2BSodium channel, voltage-gated, type II, beta subunit | 11q23.3 | * Atrial fibrillation, 14 - ATFB14 (10.171)
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SCN3BSodium channel, voltage-gated, type III, beta subunit | 11 q24.1 | * Atrial fibrillation, 16 - ATFB16 (10.173, 10.183) * Brugada syndrome 7 - BRGDA7 (10.173, 10.183)
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SCN4ASodium channel, voltage-gated, type IV, alpha | 17q23-q25.3 | * Hyperkalemic periodic paralysis - HYPP (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Myotonia potassium-aggravatd - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Sodium-channel myasthenia - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Myasthenic syndrome, acetazolamide-responsive - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Myasthenic syndrome, congenital, 16 - CMS16 (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Severe foetal hypokinesia related to SCN4A - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Congenital Myopathy 22B, severe fetal - CMYP22B (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Congenital Myopathy 22A, classic - CMYP22A (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Paramyotonia congenita of Von Eulenburg - PMC (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Potassium-aggravated myotonia - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)
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SCN4BSodium channel, voltage-gated, type IV, beta subunit | 11q23.3 | * Atrial fibrillation, 17 - ATFB17 (10.145, 10.174) * Long QT syndrome 10 - LQT10 (10.145, 10.174)
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SCN5AVoltage-gated sodium channel type V alpha | 3p22.2 | * Progressive familial heart block, type I - PFHBI (10.138, 10.167, 10.177, 10.187, 10.44) * Cardiomyopathy, dilated, 1E - CMD1E (10.138, 10.167, 10.177, 10.187, 10.44) * Sick Sinus Syndrome 1, autosomal recessive - SSS1 (10.138, 10.167, 10.177, 10.187, 10.44) * Ventricular fibrillation, idiopathic - IVF (10.138, 10.167, 10.177, 10.187, 10.44) * Ventricular fibrillation, paroxysmal familial - VF (10.138, 10.167, 10.177, 10.187, 10.44) * Hereditary bundle branch system defect - HBBD (10.138, 10.167, 10.177, 10.187, 10.44) * Cardiac conduction defect, progressive - PCCD (10.138, 10.167, 10.177, 10.187, 10.44) * Brugada syndrome 1 - BRGDA1 (10.138, 10.167, 10.177, 10.187, 10.44) * Atrial fibrillation, 10 - ATFB10 (10.138, 10.167, 10.177, 10.187, 10.44) * Long QT syndrome-3 - LQT3 (10.138, 10.167, 10.177, 10.187, 10.44)
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SCN9ASodium voltage-gated channel alpha subunit 9 | 2q24.3 | * Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.111, 14.125) * Erythromelalgia, Primary - SFNP (14.111, 14.125)
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SCO2Cytochrome c oxidase assembly protein(M) | 22q13.33 | * Mitochondrial complex IV deficiency, nuclear type 2 - MC4DN2 (CEMCOX1) (10.38, 14.99) * Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.38, 14.99)
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SCYL1SCY1 like pseudokinase 1 | 11q13.1 | * Spinocerebellar ataxia, autosomal recessive 21 - SCAR21 (13.81)
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SDHASuccinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M) | 5p15 | * Recessive neonatal isolated DC - (10.71) * Cardiomyopathy, dilated, 1GG - CMD1GG (10.71)
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| 2p23.3 | * Spastic paraplegia 81, autosomal recessive - SPG81 (15.73)
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| 1p36.13 | * Multiminicore disease, classical form - (2.13, 5.13) * myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 2.13, 5.13, 5.13) * Rigid spine syndrome related to SEPN1 - RSS (2.13, 5.13, 5.13, 5.13) * Rigid spine syndrome - RSMD1 (2.13, 5.13, 5.13, 5.13) * Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 5.13, 5.13, 5.13) * Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 5.13, 5.13, 5.13)
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| 17q25 | * Familial brachial plexus neuropathy - HNA (14.131)
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| 9q34.13 | * Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.55, 13.95) * Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.55, 13.95) * Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2 (12.55, 13.95)
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| 17q21 | * Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.27)
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| 4q12 | * Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.28)
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| 5q33-q34 | * Dilated Cardiomyopathy, 1L - CMD1L (1.30, 10.50) * Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.30, 10.50)
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| 7q21-q22 | * Myoclonus-dystonia syndrome - DYT11 (16.2)
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| 13q12 | * Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.29)
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SGPL1Sphingosine-1-Phosphate Lyase 1 | 10q22.1 | * Charcot-Marie-Tooth disease, axonal - (14.98)
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| 5q32 | * Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.32)
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SIGMAR1Sigma non-opioid intracellular receptor 1 | 9p13.3 | * spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.14, 12.67) * Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.14, 12.67)
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SIL1SIL1 homolog, endoplasmic reticulum chaperone | 5q31 | * Marinesco-Sjogren syndrome - MSS (13.97)
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SLC12A6Potassium chloride cotransporter KCC3 | 15q13-q15 | * Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.129) * Charlevoix disease - SLC12A6 (14.129) * Andermann syndrome - SLC12A6 (14.129)
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SLC16A1Solute carrier family 16, member 1 (monocarboxylic acid transporter 1) | 1p13.2 | * Erythrocyte lactate transporter defect - (9.17)
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SLC18A3Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3 | 10q11.2 | * Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21 (11.29)
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SLC1A3EAAT1 (excitatory amino acid transporter type 1) | 5p13 | * episodic ataxia type 6 - EA6 (13.51)
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SLC22A5Solute carrier family 22 member 5 | 5q31 | * Carnitine deficiency, systemic primary - CDSP (9.19)
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SLC25A1Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M) | 22q11.21 | * Presynaptic congenital myasthenic syndrome 23 - CMS23 (11.31)
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SLC25A20Carnitine-acylcarnitine translocase(M) | 3p21.31 | * Carnitine-acylcarnitine translocase deficiency - CACT (9.20)
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SLC25A26Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 | 3p14.1 | * Mitochondrial myopathy related to SLC25A26 - (16.88)
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SLC25A4Mitochondrial carrier; adenine nucleotide translocator(M) | 4q35 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.35, 16.55, 16.56) * Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.35, 16.55, 16.56) * Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.35, 16.55, 16.56)
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SLC25A42Solute carrier family 25 member 42(M) | 19p13.11 | * Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.59) * Mitochondrial myopathy - (16.59)
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SLC25A46solute carrier family 25 member 46(M) | 5q22.1 | * Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.101)
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SLC33A1Solute carrier family 33 (acetyl- CoA transporter) | 3q25.3 | * Spastic paraplegia 42, autosomal dominant - SPG42 (15.20)
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SLC52A2Solute carrier family 52, riboflavin transporter, member 2 | 8q24 | * Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.103)
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SLC52A3Solute carrier family 52, riboflavin transporter, member 3 | 20p13 | * Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.102)
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SLC5A7Solute carrier family 5 (sodium/choline cotransporter), member 7 | 2q12.31 | * Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) - HMND7 (11.28, 12.30) * Congenital myasthenic syndrome with episodic apnea - CMS20 (11.28, 12.30)
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SLC9A1Solute carrier family 9, member 1 | 1p36.11 | * Spinocerebellar ataxia, autosomal recessive 19 - SCAR19 (13.79)
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SLC9A3R1Solute carrier family 9, member 3, regulator 1 | 17q25.1 | * Hereditary peripheral neuropathy - (14.138)
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SMCHD1Structural maintenance of chromosomes flexible hinge domain containing 1 | 18p11.32 | * Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B (1.11)
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SMN1Survival 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)
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SMPD4Sphingomyelin phosphodiesterase 4, neutral membrane | 2q21.1 | * Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA (16.26)
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SMPXSmall Muscle Protein, X-linked | Xp22.12 | * Myopathy, distal, 7 adult onset, X-linked - MPD7 (4.11)
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SNAP25Synaptosome associated protein 25 | 20p12.2 | * Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.26)
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| 20q11.21 | * Long QT syndrome 12 - LQT12 (10.147)
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| 6q14.3 | * Spinocerebellar ataxia, autosomal recessive 20 - SCAR20 (13.80)
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SOD1Superoxide dismutase 1, soluble | 21q22.1 | * Amyotrophic lateral sclerosis 1 - ALS1 (12.51, 12.52) * Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.51, 12.52)
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SORDSorbitol Dehydrogenase | 15q21.1 | * Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD (12.20, 14.101) * Neuropathy, hereditary motor, autosomal recessive 8 - HMNR8 (12.20, 14.101)
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| 2p24-p21 | * Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2) * Spastic paraplegia 4 - SPG4 (15.2)
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| 2q35 | * Centronuclear myopathy 5 - CNM5 (3.22)
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SPG11SPG11 vesicle trafficking associated, Spatacsin | 15q21.1 | * Spastic paraplegia 11 - SPG11 (12.56, 14.96, 15.30) * Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.56, 14.96, 15.30) * Amyotrophic lateral sclerosis 5 - ALS5 (12.56, 14.96, 15.30)
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| 13q12.3 | * Spastic paraplegia 20 - SPG20 (15.34)
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| 15q21-q22 | * Spastic paraplegia 20 - SPG21 (15.35)
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| 16q24.3 | * Spastic paraplegia 7 - SPG7 (15.28)
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SPTAN1Spectrin, alpha, nonerythrocytic 1 | 9q34.11 | * Distal motor neuropathy - (12.34)
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SPTBN2Spectrin, Beta, Nonerythrocytic, 2 | 11q13.2 | * Spinocerebellar ataxia 5 - SCA5 (13.5, 13.74) * Spinocerebellar ataxia, autosomal recessive 14 - SCAR14 (13.5, 13.74)
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SPTBN4Spectrin, Beta, Nonerythrocytic, 4 | 19q13 | * Myopathy, Congenital, With Neuropathy And Deafness - CMND (14.140)
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SPTLC1Serine palmitoyltransferase subunit 1 | 9q22.2 | * Neuropathy, hereditary sensory, type 1 - HSN1 (12.86, 14.106) * Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (12.86, 14.106) * Amyotrophic lateral sclerosis - (12.86, 14.106)
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SPTLC2Serine palmitoyltransferase long chain base subunit 2 | 14q24.3 | * Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.108)
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| 5q35.3 | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.15, 4.23, 12.83) * Myopathy, distal, with rimmed vacuoles - DMRV (4.15, 4.23, 12.83) * Welander-like distal myopathy - (4.15, 4.23, 12.83)
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STAC3SH3 and cysteine rich domain 3 | 12q13.3 | * Congenital myopathy 13 - CMYP13 (3.41, 3.57) * Myopathy, congenital, with malignant hyperthermia susceptibility - (3.41, 3.57)
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STIM1Stromal interaction molecule 1 | 11p15.4 | * Tubular aggregate myopathy 1 - TAM1 (5.40, 5.48) * Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (5.40, 5.48)
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STUB1STIP1 homology and U-box containing protein 1 | 16p13.3 | * Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.45, 13.76) * Spinocerebellar ataxia 48 - SCA48 (13.45, 13.76)
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SUCLA2Succinate-CoA ligase, ADP-forming, beta subunit(M) | 13q12.2-q13.3 | * Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 (16.50)
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SUCLG1Succinate-CoA ligase, alpha subunit(M) | 2p11.2 | * Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.53)
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| 9q34.2 | * Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.40)
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| 10p11.23 | * Myofibrillar myopathy 10 - MFM10 (5.11)
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SYNE1Spectrin repeat containing, nuclear envelope 1 (nesprin 1) | 6q25 | * Dilated cardiomyopathy related to nesprin-1 - (1.5, 10.93, 13.68, 16.23) * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.5, 10.93, 13.68, 16.23) * Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.5, 10.93, 13.68, 16.23) * Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM (1.5, 10.93, 13.68, 16.23)
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SYNE2Spectrin repeat containing, nuclear envelope 2 (nesprin 2) | 14q23.2 | * Nesprin-2 related muscular dystrophy - EDMD (1.6)
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| 1q32.2 | * Spinocerebellar ataxia, autosomal recessive 11 - SCAR11 (13.71)
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| 1q32.1 | * Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.14, 11.15, 12.45) * Distal motor neuropathy related to SYT2 - (11.14, 11.15, 12.45) * Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B (11.14, 11.15, 12.45) * Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A (11.14, 11.15, 12.45)
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