Names of Genes

Gene Chromosome Location Syndrome Category
SACS13q12.12Autosomal recessive spastic ataxia of Charlevoix-SaguenayAtaxia spectrum
SAMD9L7q21.2Ataxia-pancytopenia syndromeAtaxia spectrum
SAMHD120q11.23Microcephaly - otherMicrocephaly
SAMHD120q11.23Aicardi-Goutieres SyndromeAutism spectrum
SASS61p21Microcephaly - otherMicrocephaly
SCAR206q14.3SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 20Autism spectrum
SCARB24q21.1Action myoclonus renal failure syndromePanic phobia anxiety
SCARB24q21.1Action myoclonus renal failure syndromeEpilepsy and seizures
SCARF222q11.21Van den Ende-Gupta syndromeCleft lip / cleft palate
SCGB3A25Q32Thyroid disordersHypothyroidism
SCGB3A25q32Graves disease - overactive thyroidHyperthyroidism
SCGB3A25q32Asthma-related traits (ASRT)Asthma
SCN10A3p22.2Small fiber neuropathyTachycardia (>100 beats/minute)
SCN1A2q24.3Genetic epilepsy with febrile seizures plusEpilepsy and seizures
SCN1A2q24.3Microcephaly - otherMicrocephaly
SCN1B19q13.11Genetic epilepsy with febrile seizures plusEpilepsy and seizures
SCN1B19q13.11Genetic epilepsy with febrile seizures plusAtaxia spectrum
SCN2A2q24.3Genetic epilepsy with febrile seizures plusEpilepsy and seizures
SCN2A2q24.3Paroxysmal extreme pain disorderBradycardia (<60 beats/minute)
SCN5A3p21Sick sinus syndromeBradycardia (<60 beats/minute)
SCN8A12q13.13SCN8A-related epilepsy with encephalopathyEpilepsy and seizures
SCN9A2q24.3Genetic epilepsy with febrile seizures plusEpilepsy and seizures
SCN9A2q24Small fiber neuropathyTachycardia (>100 beats/minute)
SCNA4q22.1Parkinson disease - other Parkinsonism
SDC28q22.1SYNDECAN 2Autism spectrum
SDHB1p36.13Thyroid disordersHypothyroidism
SDHD11q23.1Thyroid disordersHypothyroidism
SDSX23p11.22STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROMEAutism spectrum
SEC23B20p11.23Type 1 DiabetesDiabetes
SECISBP29q22.2Thyroid disordersHypothyroidism
SEMA3A7p12.1Alzheimer - late onsetAlzheimer Syndrome
SEMA3E7q21.11CHARGE syndromeCleft lip / cleft palate
SEMA5A5p15.31 SEMAPHORIN 5AAutism spectrum
SEMDFA16q13SPONDYLOEPIMETAPHYSEAL DYSPLASIA FADEN-ALKURAYA TYPEAutism spectrum
SEPN11p36.13Multiminicore diseaseArthrogryposis spectrum
SEPSECS4p15.2Pontocerebellar hypoplasiaMicrocephaly
SEPSECS4p15.2Thyroid disordersHypothyroidism
SERPINA114q32.1Alpha-1 antitrypsin deficiencyTachycardia (>100 beats/minute)
SERPINA723q22.3Inherited thyroxine-binding globulin deficiencyHypothyroidism
SERPINI13q26.1Familial encephalopathy with neuroserpin inclusion bodiesEpilepsy and seizures
SESN16q21heterotaxy syndromeHeterotaxy
SETBP118q12.3Schinzel-Giedion syndromeAutism spectrum
SETD1A16p11.2SET DOMAIN-CONTAINING PROTEIN 1AAutism spectrum
SETD23p21.31Huntington`s diseaseHuntington`s disease spectrum
SETD53p25.3Mental retardation autosomal dominant 23 (MRD23)Autism spectrum
SETX9q34.13Ataxia with oculomotor apraxiaAtaxia spectrum
SETX9q34.13ALSALS - amyotrophic lateral sclerosis
SGOL13p24.3Chronic atrial dysrhythmiaBradycardia (<60 beats/minute)
SH2B312q24.12Type 2 DiabetesDiabetes
SHANK119q13.33SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1Autism spectrum
SHANK211q13.2SHANK2 Deletion SyndromeAutism spectrum
SHANK322q13.33Phelan-McDermid SyndromeAutism spectrum
SHAPNS2p23.3SHASHI-PENA SYNDROMEAutism spectrum
SHFYNG15q11.2SCHAAF-YANG SYNDROMEAutism spectrum
SHH7q36.3Microcephaly - otherMicrocephaly
SHH7q37Nonsyndromic holoprosencephalyCleft lip / cleft palate
SHMS11Q13.1-13.2SCHUURS-HOEIJMAKERS SYNDROMEAutism spectrum
SHOC210q25.2Noonan syndrome-like disorder with loose anagen hair 1Autism spectrum
SHROOM34q21.1heterotaxy syndromeHeterotaxy
SIGMAR19p13.3ALSALS - amyotrophic lateral sclerosis
SIL15q31.2Marinesco-Sjögren syndrome type 2Ataxia spectrum
SIL15q31.2Marinesco-Sjögren syndrome type 1Cataracts
SIN3A15q24.2Witteveen-kolk syndromeAutism spectrum
SIPA1L319q13.13Cataract 45 (CTRCT45)Cataracts
SIX32p21Microcephaly - otherMicrocephaly
SIX32p21Nonsyndromic holoprosencephalyCleft lip / cleft palate
SIX614q23.1Isolated microphthalmia with cataract type 2 (MCOPCT2)Microphthalmia
SKDEAS1Q42.11-12SKRABAN-DEARDORFF SYNDROMEAutism spectrum
SKOR115q23Restless legs syndromeSleep disorders
SKS1p36.22SMITH-KINGSMORE SYNDROMEAutism spectrum
SLC11A12q35Crohn DiseaseIrritable Bowel Disorders
SLC12A615q13Andermann syndromeCerebral palsy
SLC16A11p13.2Congenital hyperinsulinismDiabetes
SLC16A223q13.2Allan-Herndon-Dudley syndromeHypothyroidism
SLC17A56q13Sialic acid storage diseaseAtaxia spectrum
SLC19A21q24.2Type 2 DiabetesDiabetes
SLC19A32q36.3Biotin-thiamine-responsive basal ganglia diseaseAtaxia spectrum
SLC1A35p13.2Episodic ataxiaAtaxia spectrum
SLC1A42p14Microcephaly - otherMicrocephaly
SLC20A28p11.21Familial idiopathic basal ganglia calcificationAtaxia spectrum
SLC22A45q31.1Crohn DiseaseIrritable Bowel Disorders
SLC22A55q31.1Primary carnitine deficiencyReye`s Syndrome-like diseases
SLC22A55q31.1Crohn DiseaseIrritable Bowel Disorders
SLC24A515q21.1Oculocutaneous albinism type 6Photophobia - sensitivity to light
SLC25A122q11.212-hydroxyglutaric aciduriaAtaxia spectrum
SLC25A122q24Global cerebral hypomyelinationAutism spectrum
SLC25A137q21.3CitrullinemiaAtaxia spectrum
SLC25A1513q14.11Ornithine translocase deficiencyAtaxia spectrum
SLC25A1917q25.3Amish lethal microcephalyMicrocephaly
SLC25A44q35.1Progressive external ophthalmoplegiaAtaxia spectrum
SLC26A47q22.3Congenital hypothyroidismHypothyroidism
SLC29A310q22.1Type 1 DiabetesDiabetes
SLC2A11p34.2GLUT1 deficiency syndromeAtaxia spectrum
SLC2A11p34.2Microcephaly - otherMicrocephaly
SLC2A11p34.2Non-epileptic GLUT1 deficiency syndromeAtaxia spectrum
SLC2A1020q13.12Type 2 DiabetesDiabetes
SLC2A23q26.2Type 2 DiabetesDiabetes
SLC2A417p13.1Type 2 DiabetesDiabetes
SLC30A88q24.11Type 2 DiabetesDiabetes
SLC35A31p21Arthrogryposis mental retardation and seizures (AMRS)Arthrogryposis spectrum
SLC37A411q23.3Glycogen storage disease type IHyperlipidemia
SLC3A12p21CYSTINURIA TYPE AAutism spectrum
SLC45A25p13.2Oculocutaneous albinism type 4Photophobia - sensitivity to light
SLC46A117q11.2Hereditary folate malabsorptionAtaxia spectrum
SLC52A320p13Brown-Vialetto-Van Laere syndrome (BVVLS)Cerebral palsy
SLC5A519p13.11Congenital hypothyroidismHypothyroidism
SLC6A13p25.3Myoclonic epilepsy with ragged-red fibers (MERRF)Epilepsy and seizures
SLC6A195p15.33Hartnup diseaseAtaxia spectrum
SLC6A216q12.2Orthostatic intolerance syndromeTachycardia (>100 beats/minute)
SLC6A35p15.3Dopamine transmitter deficiencyAutism spectrum
SLC6A35p15.33Infantile Parkinsonism dystoniaParkinsonism
SLC6A417q11.2Alzheimer - late onsetAlzheimer Syndrome
SLC6A511p15.1hereditary hyperekplexiaEpilepsy and seizures
SLC6A823q28X-linked creatine deficiencyMicrocephaly
SLC6A91p34.1GLYCINE ENCEPHALOPATHYAutism spectrum
SLC7A91913.11CYSTINURIA TYPE AAutism spectrum
SLC9A11p36.11SOLUTE CARRIER FAMILY 9 MEMBER 1Autism spectrum
SLC9A623q26.3Christianson syndromeMicrocephaly
SLC9A93q24Autism 16 with epilepsy (AUTS16)Autism spectrum
SLI313q21SPECIFIC LANGUAGE IMPAIRMENT 3Autism spectrum
SLI47q35-q36SPECIFIC LANGUAGE IMPAIRMENT 4Autism spectrum
SLI52q36.3SPECIFIC LANGUAGE IMPAIRMENT 5Autism spectrum
SLITRK113q31.1Tourette syndromePanic phobia anxiety
SLOS11q13.4Smith-Lemli-Opitz syndromeAutism spectrum
SLX416p13.3Microcephaly - otherMicrocephaly
SMAD218q21.1heterotaxy syndromeHeterotaxy
SMAD315q22.33Loeys-Dietz syndromeAsthma
SMAD418q21.1Myhre syndromeCleft lip / cleft palate
SMARCA29p24.3Microcephaly - otherMicrocephaly
SMARCA419p13.2Microcephaly - otherMicrocephaly
SMARCAL12q35Schimke immuno-osseous dysplasiaHypothyroidism
SMARCB122q11.23Microcephaly - otherMicrocephaly
SMARCC212q13.2Autism 18 (AUTS18)Autism spectrum
SMARCE117q21.2Microcephaly - otherMicrocephaly
SMC1A23p11.22Microcephaly - otherMicrocephaly
SMC1A23p11.21-22Cornelia de Lange SyndromeAutism spectrum
SMC310q25.2Microcephaly - otherMicrocephaly
SMC310q25Cornelia de Lange SyndromeAutism spectrum
SMN15q13.2ALSALS - amyotrophic lateral sclerosis
SMOC114q24.2Ophthalmo-acromelic syndromeCleft lip / cleft palate
SMPD111p15.4Niemann-Pick diseaseAtaxia spectrum
SMS23p22.1Snyder-Robinson syndromeCleft lip / cleft palate
SNCA4q22.1Multiple system atrophyAtaxia spectrum
SNCB5q35Alzheimer - late onsetAlzheimer Syndrome
SNIBCPS17p13.1Snijders Blok-Campeau syndromeAutism spectrum
SNIP11p34.3Psychomotor retardation epilepsy and craniofacial dysmorphismEpilepsy and seizures
SNM15q13.2Arthrogryposis - otherArthrogryposis spectrum
SOD121q22.11ALSALS - amyotrophic lateral sclerosis
SOD121q22.1Amyotrophic lateral sclerosis (ALS)Copper metabolism defects
SON21q22.11Zhu-Tokita-Takenouchi-Kim syndromeAutism spectrum
SORL111q23.2-24.2Alzheimer - late onsetAlzheimer Syndrome
SOS12p22.1Noonan syndromeAutism spectrum
SOS214q21.3Noonan syndromeAutism spectrum
SOTOS219p13.13SOTOS SYNDROME 2Autism spectrum
SOTOS319p13.3SOTOS SYNDROME 3Autism spectrum
SOX1022q13.1SRY-BOX 10Autism spectrum
SOX23q26.33Microphthalmia syndromic 6 (MCOPS6)Microphthalmia
SPAST2p22.3Spastic paraplegiaAutism spectrum
SPATA54q28.1Epilepsy hearing loss and mental retardation syndromeEpilepsy and seizures
SPATA714q31.3Leber congenital amaurosisPhotophobia - sensitivity to light
SPCH17q31.1SPEECH-LANGUAGE DISORDER 1Autism spectrum
SPECC1L22q11.23Opitz G/BBB syndromeCleft lip / cleft palate
SPG1115q21.1ALSALS - amyotrophic lateral sclerosis
SPG716q24.3Progressive external ophthalmoplegiaAtaxia spectrum
SPINK15q32hereditary pancreatitisDiabetes
SPINK55q32Netherton syndromeAsthma
SPR2p12-p14Sepiapterin reductase deficiencyMicrocephaly
SPRED22p14Rheumatoid arthritisArthritis
SPRED22p14ALSALS - amyotrophic lateral sclerosis
SPTBN211q13.2Spinocerebellar ataxia autosomal recessive type 14Ataxia spectrum
SPTBN211q13.2Spinocerebellar ataxia type 05Ataxia spectrum
SQSTM15q35.3ALSALS - amyotrophic lateral sclerosis
SRCAP16p11.12Floating-Harbor syndromeAutism spectrum
SRGAP2C1p11.2SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2CAutism spectrum
SRMMD11q23.3SHORT STATURE RHIZOMELIC WITH MICROCEPHALY MICROGNATHIA AND DELAYAutism spectrum
SRPX223q22.1Rolandic epilepsy with speech dyspraxia and mental retardation X-linkedEpilepsy and seizures
SRSF111p31.1Autism 18 (AUTS18)Autism spectrum
SRXY98q23.146 XY SEX REVERSAL 9Autism spectrum
SSADHD6p22.3Succinic semialdehyde dehydrogenase deficiencyPanic phobia anxiety
ST3GAL52p11.2GM3 synthase deficiencyEpilepsy and seizures
ST77q31.2SUPPRESSOR OF TUMORIGENICITY 7Autism spectrum
STAC312q13.3Native American myopathyArthrogryposis spectrum
STAMBP2p13.1Microcephaly-capillary malformation syndromeMicrocephaly
STAT12q32.2familial candidiasis (yeast infections)Encephalitis
STAT317q21.2Crohn DiseaseIrritable Bowel Disorders
STAT42q32.2-3Rheumatoid arthritisArthritis
STEAP32q14.2Hypochromic microcytic anemia with iron overload 2 (AHMIO2)Copper metabolism defects
STIL1p32Autosomal recessive primary microcephalyMicrocephaly
STISS17q24.2 Stankiewicz-Isidor syndromeAutism spectrum
STRA615q24.1Microphthalmia isolated with coloboma 3 (MCOPCB3)Microphthalmia
STRADA17q23.3Polyhydramnios megalencephaly and symptomatic epilepsyEpilepsy and seizures
STUB116p13.3Spinocerebellar ataxia autosomal recessive type 16Ataxia spectrum
STX1B16p11.2Genetic epilepsy with febrile seizures plusEpilepsy and seizures
STX1B16p11.2Genetic epilepsy with febrile seizures plusAtaxia spectrum
STXBP19q34.11STXBP1 encephalopathy with epilepsyEpilepsy and seizures
SUMO12q33Non-syndromic orofacial cleft 10Cleft lip / cleft palate
SUMO46q25.1Type 1 DiabetesDiabetes
SUOX12q13.2Isolated sulfite oxidase deficiencyAtaxia spectrum
SYN123p11.3EPILEPSY X_LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERSAutism spectrum
SYN23p25Abnormal presynaptic function disorderAutism spectrum
SYNE16q25.2Autosomal recessive cerebellar ataxia type 01Ataxia spectrum
SYNGAP16p21.32Mental retardation autosomal dominant 05 (MRD5)Autism spectrum
SYNJ121q22.11Parkinson disease early onsetParkinsonism
SYT141q32.2Spinocerebellar ataxia autosomal recessive type 11Ataxia spectrum


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