Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
| 13q12 | * Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.102, 14.97, 15.96) * Charcot-Marie-Tooth disease, axonal; related to SACS - (13.102, 14.97, 15.96)
* Spastic ataxia, Charlevoix-Saguenay type - SACS (13.102, 14.97, 15.96)
* Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.102, 14.97, 15.96)
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SAMD9LSterile Alpha Motif Domain-Containing Protein 9-Like    | 7q21.2 | * Spinocerebellar ataxia 49 - SCA49 (13.45, 13.56)
* Ataxia-pancytopenia syndrome - ATXPC (13.45, 13.56)
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| 22q13.33 | * Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.25)
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| 11p15.4 | * charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.24)
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SCN11ASodium voltage-gated channel alpha subunit 11     | 3p22.2 | * Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.112, 14.123)
* Episodic pain syndrome, familial 3 - FEPS3 (14.112, 14.123)
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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 (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34)
* Myotonia potassium-aggravatd - (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34) * Sodium-channel myasthenia - (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34)
* Myasthenic syndrome, acetazolamide-responsive - (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34)
* Myasthenic syndrome, congenital, 16 - CMS16 (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34) * Severe foetal hypokinesia related to SCN4A - (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34)
* Congenital Myopathy 22B, severe fetal - CMYP22B (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34)
* Congenital Myopathy 22A, classic - CMYP22A (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34)
* Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34)
* Paramyotonia congenita of Von Eulenburg - PMC (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34)
* Potassium-aggravated myotonia - (3.59, 3.60, 7.3, 7.4, 7.6, 7.7, 11.24, 17.34)
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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, 10.43)
* Cardiomyopathy, dilated, 1E - CMD1E (10.138, 10.167, 10.177, 10.187, 10.43)
* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (10.138, 10.167, 10.177, 10.187, 10.43)
* Ventricular fibrillation, idiopathic - IVF (10.138, 10.167, 10.177, 10.187, 10.43)
* Ventricular fibrillation, paroxysmal familial - VF (10.138, 10.167, 10.177, 10.187, 10.43)
* Hereditary bundle branch system defect - HBBD (10.138, 10.167, 10.177, 10.187, 10.43)
* Cardiac conduction defect, progressive - PCCD (10.138, 10.167, 10.177, 10.187, 10.43)
* Brugada syndrome 1 - BRGDA1 (10.138, 10.167, 10.177, 10.187, 10.43)
* Atrial fibrillation, 10 - ATFB10 (10.138, 10.167, 10.177, 10.187, 10.43)
* Long QT syndrome-3 - LQT3 (10.138, 10.167, 10.177, 10.187, 10.43)
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SCN9ASodium voltage-gated channel alpha subunit 9     | 2q24.3 | * Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.107, 14.122)
* Erythromelalgia, Primary - SFNP (14.107, 14.122)
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SCO2Cytochrome c oxidase assembly protein(M)     | 22q13.33 | * Mitochondrial complex IV deficiency, nuclear type 2 - MC4DN2 (CEMCOX1) (10.37, 14.96) * Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.37, 14.96)
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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 - (10.70)
* Cardiomyopathy, dilated, 1GG - CMD1GG (10.70)
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| 2p23.3 | * Spastic paraplegia 81, autosomal recessive - SPG81 (15.70)
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| 1p36.13 | * Multiminicore disease, classical form - (2.13, 5.13)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 5.13) * Rigid spine syndrome related to SEPN1 - RSS (2.13, 5.13)
* Rigid spine syndrome - RSMD1 (2.13, 5.13)
* Congenital myopathy 3 with rigid spine - CMYO3 (2.13, 5.13)
* Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 5.13)
* Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 5.13)
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| 17q25 | * Familial brachial plexus neuropathy - HNA (14.128)
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| 9q34.13 | * Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.57, 13.95)
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.57, 13.95)
* Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2 (12.57, 13.95)
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| 17q21 | * Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.26)
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| 4q12 | * Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.27)
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| 5q33-q34 | * Dilated Cardiomyopathy, 1L - CMD1L (1.29, 10.49)
* Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.29, 10.49)
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| 7q21-q22 | * Myoclonus-dystonia syndrome - DYT11 (17.2)
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| 13q12 | * Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.28)
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SGPL1Sphingosine-1-Phosphate Lyase 1     | 10q22.1 | * Charcot-Marie-Tooth disease, axonal - (14.95)
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| 5q32 | * Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.26)
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SIGMAR1Sigma non-opioid intracellular receptor 1    | 9p13.3 | * spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.6, 12.69)
* Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.6, 12.69)
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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 (14.126)
* Charlevoix disease - SLC12A6 (14.126)
* Andermann syndrome - SLC12A6 (14.126)
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SLC16A1Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)     | 1p13.2 | * Erythrocyte lactate transporter defect - (9.21)
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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 (9.23)
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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 (9.24)
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SLC25A26Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26     | 3p14.1 | * Mitochondrial myopathy related to SLC25A26 - (16.35)
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SLC25A4Mitochondrial carrier; adenine nucleotide translocator(M)     | 4q35 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.2, 16.18, 16.19)
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.2, 16.18, 16.19)
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.2, 16.18, 16.19)
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SLC25A42Solute carrier family 25 member 42(M)     | 19p13.11 | * Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (17.38) * Mitochondrial myopathy - (17.38)
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SLC25A46solute carrier family 25 member 46(M)     | 5q22.1 | * Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.104)
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SLC33A1Solute carrier family 33 (acetyl- CoA transporter)      | 3q25.3 | * Spastic paraplegia 42, autosomal dominant - SPG42 (15.19)
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SLC52A2Solute carrier family 52, riboflavin transporter, member 2    | 8q24 | * Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.106)
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SLC52A3Solute carrier family 52, riboflavin transporter, member 3    | 20p13 | * Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.105)
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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, 12.29)
* Congenital myasthenic syndrome with episodic apnea - CMS20 (11.28, 12.29)
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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 - (14.135)
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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 (17.27)
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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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| 15q24.2 | * Muscular dystrophy, limb-girdle, autosomal recessive 29 - LGMDR29 (1.42)
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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 (12.53, 12.54)
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.53, 12.54)
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SORDSorbitol Dehydrogenase     | 15q21.1 | * Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD (12.12, 14.98)
* Neuropathy, hereditary motor, autosomal recessive 8 - HMNR8 (12.12, 14.98)
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| 16p13.3 | * Congenital myopathy with Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction - (3.67)
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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 (3.21)
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SPG11SPG11 vesicle trafficking associated, Spatacsin     | 15q21.1 | * Spastic paraplegia 11 - SPG11 (12.58, 14.93, 15.27)
* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.58, 14.93, 15.27)
* Amyotrophic lateral sclerosis 5 - ALS5 (12.58, 14.93, 15.27)
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| 13q12.3 | * Spastic paraplegia 20 - SPG20 (15.31)
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| 15q21-q22 | * Spastic paraplegia 20 - SPG21 (15.32)
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| 16q24.3 | * Spastic paraplegia 7 - SPG7 (15.25)
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SPTAN1Spectrin, alpha, nonerythrocytic 1     | 9q34.11 | * Distal motor neuropathy - (12.33, 15.80)
* Spastic paraplegia 91, autosomal recessive, with or without cerebellar ataxia - SPG91 (12.33, 15.80)
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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 (3.45)
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SPTLC1Serine palmitoyltransferase subunit 1     | 9q22.2 | * Neuropathy, hereditary sensory, type 1 - HSN1 (12.80, 14.102)
* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (12.80, 14.102) * Amyotrophic lateral sclerosis - (12.80, 14.102)
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SPTLC2Serine palmitoyltransferase long chain base subunit 2     | 14q24.3 | * Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.104)
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SPTSSASerine palmitoyltransferase, small subunit, A     | 14q13.1 | * Spastic paraplegia 90B, autosomal recessive - SPG90B (15.79)
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| 5q35.3 | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.15, 4.23, 12.87)
* Myopathy, distal, with rimmed vacuoles - DMRV (4.15, 4.23, 12.87) * Welander-like distal myopathy - (4.15, 4.23, 12.87)
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STAC3SH3 and cysteine rich domain 3     | 12q13.3 | * Congenital myopathy 13 - CMYP13 (3.51, 3.52) * Myopathy, congenital, with malignant hyperthermia susceptibility - (3.51, 3.52)
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STIM1Stromal interaction molecule 1     | 11p15.4 | * Tubular aggregate myopathy 1 - TAM1 (5.41, 5.46) * Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (5.41, 5.46)
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STUB1STIP1 homology and U-box containing protein 1     | 16p13.3 | * Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.44, 13.76)
* Spinocerebellar ataxia 48 - SCA48 (13.44, 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 (17.39)
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SUCLG1Succinate-CoA ligase, alpha subunit(M)     | 2p11.2 | * Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (17.42)
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| 9q34.2 | * Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.34)
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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, 10.92, 13.68, 17.23)
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.5, 10.92, 13.68, 17.23)
* Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.5, 10.92, 13.68, 17.23)
* Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM (1.5, 10.92, 13.68, 17.23)
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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, 12.46) * Distal motor neuropathy related to SYT2 - (11.14, 11.15, 12.46)
* Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B (11.14, 11.15, 12.46)
* Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A (11.14, 11.15, 12.46)
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