Gene |
Chromosome |
Location |
Syndrome |
Category |
SACS | 13 | q12.12 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | Ataxia spectrum | |
SAMD9L | 7 | q21.2 | Ataxia-pancytopenia syndrome | Ataxia spectrum | |
SAMHD1 | 20 | q11.23 | Microcephaly - other | Microcephaly | |
SAMHD1 | 20 | q11.23 | Aicardi-Goutieres Syndrome | Autism spectrum | |
SASS6 | 1 | p21 | Microcephaly - other | Microcephaly | |
SCAR20 | 6 | q14.3 | SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 20 | Autism spectrum | |
SCARB2 | 4 | q21.1 | Action myoclonus renal failure syndrome | Panic phobia anxiety | |
SCARB2 | 4 | q21.1 | Action myoclonus renal failure syndrome | Epilepsy and seizures | |
SCARF2 | 22 | q11.21 | Van den Ende-Gupta syndrome | Cleft lip / cleft palate | |
SCGB3A2 | 5 | Q32 | Thyroid disorders | Hypothyroidism | |
SCGB3A2 | 5 | q32 | Graves disease - overactive thyroid | Hyperthyroidism | |
SCGB3A2 | 5 | q32 | Asthma-related traits (ASRT) | Asthma | |
SCN10A | 3 | p22.2 | Small fiber neuropathy | Tachycardia (>100 beats/minute) | |
SCN1A | 2 | q24.3 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
SCN1A | 2 | q24.3 | Microcephaly - other | Microcephaly | |
SCN1B | 19 | q13.11 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
SCN1B | 19 | q13.11 | Genetic epilepsy with febrile seizures plus | Ataxia spectrum | |
SCN2A | 2 | q24.3 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
SCN2A | 2 | q24.3 | Paroxysmal extreme pain disorder | Bradycardia (<60 beats/minute) | |
SCN5A | 3 | p21 | Sick sinus syndrome | Bradycardia (<60 beats/minute) | |
SCN8A | 12 | q13.13 | SCN8A-related epilepsy with encephalopathy | Epilepsy and seizures | |
SCN9A | 2 | q24.3 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
SCN9A | 2 | q24 | Small fiber neuropathy | Tachycardia (>100 beats/minute) | |
SCNA | 4 | q22.1 | Parkinson disease - other | Parkinsonism | |
SDC2 | 8 | q22.1 | SYNDECAN 2 | Autism spectrum | |
SDHB | 1 | p36.13 | Thyroid disorders | Hypothyroidism | |
SDHD | 11 | q23.1 | Thyroid disorders | Hypothyroidism | |
SDSX | 23 | p11.22 | STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME | Autism spectrum | |
SEC23B | 20 | p11.23 | Type 1 Diabetes | Diabetes | |
SECISBP2 | 9 | q22.2 | Thyroid disorders | Hypothyroidism | |
SEMA3A | 7 | p12.1 | Alzheimer - late onset | Alzheimer Syndrome | |
SEMA3E | 7 | q21.11 | CHARGE syndrome | Cleft lip / cleft palate | |
SEMA5A | 5 | p15.31 | SEMAPHORIN 5A | Autism spectrum | |
SEMDFA | 16 | q13 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA FADEN-ALKURAYA TYPE | Autism spectrum | |
SEPN1 | 1 | p36.13 | Multiminicore disease | Arthrogryposis spectrum | |
SEPSECS | 4 | p15.2 | Pontocerebellar hypoplasia | Microcephaly | |
SEPSECS | 4 | p15.2 | Thyroid disorders | Hypothyroidism | |
SERPINA1 | 14 | q32.1 | Alpha-1 antitrypsin deficiency | Tachycardia (>100 beats/minute) | |
SERPINA7 | 23 | q22.3 | Inherited thyroxine-binding globulin deficiency | Hypothyroidism | |
SERPINI1 | 3 | q26.1 | Familial encephalopathy with neuroserpin inclusion bodies | Epilepsy and seizures | |
SESN1 | 6 | q21 | heterotaxy syndrome | Heterotaxy | |
SETBP1 | 18 | q12.3 | Schinzel-Giedion syndrome | Autism spectrum | |
SETD1A | 16 | p11.2 | SET DOMAIN-CONTAINING PROTEIN 1A | Autism spectrum | |
SETD2 | 3 | p21.31 | Huntington`s disease | Huntington`s disease spectrum | |
SETD5 | 3 | p25.3 | Mental retardation autosomal dominant 23 (MRD23) | Autism spectrum | |
SETX | 9 | q34.13 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
SETX | 9 | q34.13 | ALS | ALS - amyotrophic lateral sclerosis | |
SGOL1 | 3 | p24.3 | Chronic atrial dysrhythmia | Bradycardia (<60 beats/minute) | |
SH2B3 | 12 | q24.12 | Type 2 Diabetes | Diabetes | |
SHANK1 | 19 | q13.33 | SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1 | Autism spectrum | |
SHANK2 | 11 | q13.2 | SHANK2 Deletion Syndrome | Autism spectrum | |
SHANK3 | 22 | q13.33 | Phelan-McDermid Syndrome | Autism spectrum | |
SHAPNS | 2 | p23.3 | SHASHI-PENA SYNDROME | Autism spectrum | |
SHFYNG | 15 | q11.2 | SCHAAF-YANG SYNDROME | Autism spectrum | |
SHH | 7 | q36.3 | Microcephaly - other | Microcephaly | |
SHH | 7 | q37 | Nonsyndromic holoprosencephaly | Cleft lip / cleft palate | |
SHMS | 11 | Q13.1-13.2 | SCHUURS-HOEIJMAKERS SYNDROME | Autism spectrum | |
SHOC2 | 10 | q25.2 | Noonan syndrome-like disorder with loose anagen hair 1 | Autism spectrum | |
SHROOM3 | 4 | q21.1 | heterotaxy syndrome | Heterotaxy | |
SIGMAR1 | 9 | p13.3 | ALS | ALS - amyotrophic lateral sclerosis | |
SIL1 | 5 | q31.2 | Marinesco-Sjögren syndrome type 2 | Ataxia spectrum | |
SIL1 | 5 | q31.2 | Marinesco-Sjögren syndrome type 1 | Cataracts | |
SIN3A | 15 | q24.2 | Witteveen-kolk syndrome | Autism spectrum | |
SIPA1L3 | 19 | q13.13 | Cataract 45 (CTRCT45) | Cataracts | |
SIX3 | 2 | p21 | Microcephaly - other | Microcephaly | |
SIX3 | 2 | p21 | Nonsyndromic holoprosencephaly | Cleft lip / cleft palate | |
SIX6 | 14 | q23.1 | Isolated microphthalmia with cataract type 2 (MCOPCT2) | Microphthalmia | |
SKDEAS | 1 | Q42.11-12 | SKRABAN-DEARDORFF SYNDROME | Autism spectrum | |
SKOR1 | 15 | q23 | Restless legs syndrome | Sleep disorders | |
SKS | 1 | p36.22 | SMITH-KINGSMORE SYNDROME | Autism spectrum | |
SLC11A1 | 2 | q35 | Crohn Disease | Irritable Bowel Disorders | |
SLC12A6 | 15 | q13 | Andermann syndrome | Cerebral palsy | |
SLC16A1 | 1 | p13.2 | Congenital hyperinsulinism | Diabetes | |
SLC16A2 | 23 | q13.2 | Allan-Herndon-Dudley syndrome | Hypothyroidism | |
SLC17A5 | 6 | q13 | Sialic acid storage disease | Ataxia spectrum | |
SLC19A2 | 1 | q24.2 | Type 2 Diabetes | Diabetes | |
SLC19A3 | 2 | q36.3 | Biotin-thiamine-responsive basal ganglia disease | Ataxia spectrum | |
SLC1A3 | 5 | p13.2 | Episodic ataxia | Ataxia spectrum | |
SLC1A4 | 2 | p14 | Microcephaly - other | Microcephaly | |
SLC20A2 | 8 | p11.21 | Familial idiopathic basal ganglia calcification | Ataxia spectrum | |
SLC22A4 | 5 | q31.1 | Crohn Disease | Irritable Bowel Disorders | |
SLC22A5 | 5 | q31.1 | Primary carnitine deficiency | Reye`s Syndrome-like diseases | |
SLC22A5 | 5 | q31.1 | Crohn Disease | Irritable Bowel Disorders | |
SLC24A5 | 15 | q21.1 | Oculocutaneous albinism type 6 | Photophobia - sensitivity to light | |
SLC25A1 | 22 | q11.21 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
SLC25A12 | 2 | q24 | Global cerebral hypomyelination | Autism spectrum | |
SLC25A13 | 7 | q21.3 | Citrullinemia | Ataxia spectrum | |
SLC25A15 | 13 | q14.11 | Ornithine translocase deficiency | Ataxia spectrum | |
SLC25A19 | 17 | q25.3 | Amish lethal microcephaly | Microcephaly | |
SLC25A4 | 4 | q35.1 | Progressive external ophthalmoplegia | Ataxia spectrum | |
SLC26A4 | 7 | q22.3 | Congenital hypothyroidism | Hypothyroidism | |
SLC29A3 | 10 | q22.1 | Type 1 Diabetes | Diabetes | |
SLC2A1 | 1 | p34.2 | GLUT1 deficiency syndrome | Ataxia spectrum | |
SLC2A1 | 1 | p34.2 | Microcephaly - other | Microcephaly | |
SLC2A1 | 1 | p34.2 | Non-epileptic GLUT1 deficiency syndrome | Ataxia spectrum | |
SLC2A10 | 20 | q13.12 | Type 2 Diabetes | Diabetes | |
SLC2A2 | 3 | q26.2 | Type 2 Diabetes | Diabetes | |
SLC2A4 | 17 | p13.1 | Type 2 Diabetes | Diabetes | |
SLC30A8 | 8 | q24.11 | Type 2 Diabetes | Diabetes | |
SLC35A3 | 1 | p21 | Arthrogryposis mental retardation and seizures (AMRS) | Arthrogryposis spectrum | |
SLC37A4 | 11 | q23.3 | Glycogen storage disease type I | Hyperlipidemia | |
SLC3A1 | 2 | p21 | CYSTINURIA TYPE A | Autism spectrum | |
SLC45A2 | 5 | p13.2 | Oculocutaneous albinism type 4 | Photophobia - sensitivity to light | |
SLC46A1 | 17 | q11.2 | Hereditary folate malabsorption | Ataxia spectrum | |
SLC52A3 | 20 | p13 | Brown-Vialetto-Van Laere syndrome (BVVLS) | Cerebral palsy | |
SLC5A5 | 19 | p13.11 | Congenital hypothyroidism | Hypothyroidism | |
SLC6A1 | 3 | p25.3 | Myoclonic epilepsy with ragged-red fibers (MERRF) | Epilepsy and seizures | |
SLC6A19 | 5 | p15.33 | Hartnup disease | Ataxia spectrum | |
SLC6A2 | 16 | q12.2 | Orthostatic intolerance syndrome | Tachycardia (>100 beats/minute) | |
SLC6A3 | 5 | p15.3 | Dopamine transmitter deficiency | Autism spectrum | |
SLC6A3 | 5 | p15.33 | Infantile Parkinsonism dystonia | Parkinsonism |
SLC6A4 | 17 | q11.2 | Alzheimer - late onset | Alzheimer Syndrome | |
SLC6A5 | 11 | p15.1 | hereditary hyperekplexia | Epilepsy and seizures | |
SLC6A8 | 23 | q28 | X-linked creatine deficiency | Microcephaly | |
SLC6A9 | 1 | p34.1 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
SLC7A9 | 19 | 13.11 | CYSTINURIA TYPE A | Autism spectrum | |
SLC9A1 | 1 | p36.11 | SOLUTE CARRIER FAMILY 9 MEMBER 1 | Autism spectrum | |
SLC9A6 | 23 | q26.3 | Christianson syndrome | Microcephaly | |
SLC9A9 | 3 | q24 | Autism 16 with epilepsy (AUTS16) | Autism spectrum | |
SLI3 | 13 | q21 | SPECIFIC LANGUAGE IMPAIRMENT 3 | Autism spectrum | |
SLI4 | 7 | q35-q36 | SPECIFIC LANGUAGE IMPAIRMENT 4 | Autism spectrum | |
SLI5 | 2 | q36.3 | SPECIFIC LANGUAGE IMPAIRMENT 5 | Autism spectrum | |
SLITRK1 | 13 | q31.1 | Tourette syndrome | Panic phobia anxiety | |
SLOS | 11 | q13.4 | Smith-Lemli-Opitz syndrome | Autism spectrum | |
SLX4 | 16 | p13.3 | Microcephaly - other | Microcephaly | |
SMAD2 | 18 | q21.1 | heterotaxy syndrome | Heterotaxy | |
SMAD3 | 15 | q22.33 | Loeys-Dietz syndrome | Asthma | |
SMAD4 | 18 | q21.1 | Myhre syndrome | Cleft lip / cleft palate | |
SMARCA2 | 9 | p24.3 | Microcephaly - other | Microcephaly | |
SMARCA4 | 19 | p13.2 | Microcephaly - other | Microcephaly | |
SMARCAL1 | 2 | q35 | Schimke immuno-osseous dysplasia | Hypothyroidism | |
SMARCB1 | 22 | q11.23 | Microcephaly - other | Microcephaly | |
SMARCC2 | 12 | q13.2 | Autism 18 (AUTS18) | Autism spectrum | |
SMARCE1 | 17 | q21.2 | Microcephaly - other | Microcephaly | |
SMC1A | 23 | p11.22 | Microcephaly - other | Microcephaly | |
SMC1A | 23 | p11.21-22 | Cornelia de Lange Syndrome | Autism spectrum | |
SMC3 | 10 | q25.2 | Microcephaly - other | Microcephaly | |
SMC3 | 10 | q25 | Cornelia de Lange Syndrome | Autism spectrum | |
SMN1 | 5 | q13.2 | ALS | ALS - amyotrophic lateral sclerosis | |
SMOC1 | 14 | q24.2 | Ophthalmo-acromelic syndrome | Cleft lip / cleft palate | |
SMPD1 | 11 | p15.4 | Niemann-Pick disease | Ataxia spectrum | |
SMS | 23 | p22.1 | Snyder-Robinson syndrome | Cleft lip / cleft palate | |
SNCA | 4 | q22.1 | Multiple system atrophy | Ataxia spectrum | |
SNCB | 5 | q35 | Alzheimer - late onset | Alzheimer Syndrome | |
SNIBCPS | 17 | p13.1 | Snijders Blok-Campeau syndrome | Autism spectrum | |
SNIP1 | 1 | p34.3 | Psychomotor retardation epilepsy and craniofacial dysmorphism | Epilepsy and seizures | |
SNM1 | 5 | q13.2 | Arthrogryposis - other | Arthrogryposis spectrum | |
SOD1 | 21 | q22.11 | ALS | ALS - amyotrophic lateral sclerosis | |
SOD1 | 21 | q22.1 | Amyotrophic lateral sclerosis (ALS) | Copper metabolism defects | |
SON | 21 | q22.11 | Zhu-Tokita-Takenouchi-Kim syndrome | Autism spectrum | |
SORL1 | 11 | q23.2-24.2 | Alzheimer - late onset | Alzheimer Syndrome | |
SOS1 | 2 | p22.1 | Noonan syndrome | Autism spectrum | |
SOS2 | 14 | q21.3 | Noonan syndrome | Autism spectrum | |
SOTOS2 | 19 | p13.13 | SOTOS SYNDROME 2 | Autism spectrum | |
SOTOS3 | 19 | p13.3 | SOTOS SYNDROME 3 | Autism spectrum | |
SOX10 | 22 | q13.1 | SRY-BOX 10 | Autism spectrum | |
SOX2 | 3 | q26.33 | Microphthalmia syndromic 6 (MCOPS6) | Microphthalmia | |
SPAST | 2 | p22.3 | Spastic paraplegia | Autism spectrum | |
SPATA5 | 4 | q28.1 | Epilepsy hearing loss and mental retardation syndrome | Epilepsy and seizures | |
SPATA7 | 14 | q31.3 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
SPCH1 | 7 | q31.1 | SPEECH-LANGUAGE DISORDER 1 | Autism spectrum | |
SPECC1L | 22 | q11.23 | Opitz G/BBB syndrome | Cleft lip / cleft palate | |
SPG11 | 15 | q21.1 | ALS | ALS - amyotrophic lateral sclerosis | |
SPG7 | 16 | q24.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
SPINK1 | 5 | q32 | hereditary pancreatitis | Diabetes | |
SPINK5 | 5 | q32 | Netherton syndrome | Asthma | |
SPR | 2 | p12-p14 | Sepiapterin reductase deficiency | Microcephaly | |
SPRED2 | 2 | p14 | Rheumatoid arthritis | Arthritis | |
SPRED2 | 2 | p14 | ALS | ALS - amyotrophic lateral sclerosis | |
SPTBN2 | 11 | q13.2 | Spinocerebellar ataxia autosomal recessive type 14 | Ataxia spectrum | |
SPTBN2 | 11 | q13.2 | Spinocerebellar ataxia type 05 | Ataxia spectrum | |
SQSTM1 | 5 | q35.3 | ALS | ALS - amyotrophic lateral sclerosis | |
SRCAP | 16 | p11.12 | Floating-Harbor syndrome | Autism spectrum | |
SRGAP2C | 1 | p11.2 | SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2C | Autism spectrum | |
SRMMD | 11 | q23.3 | SHORT STATURE RHIZOMELIC WITH MICROCEPHALY MICROGNATHIA AND DELAY | Autism spectrum | |
SRPX2 | 23 | q22.1 | Rolandic epilepsy with speech dyspraxia and mental retardation X-linked | Epilepsy and seizures | |
SRSF11 | 1 | p31.1 | Autism 18 (AUTS18) | Autism spectrum | |
SRXY9 | 8 | q23.1 | 46 XY SEX REVERSAL 9 | Autism spectrum | |
SSADHD | 6 | p22.3 | Succinic semialdehyde dehydrogenase deficiency | Panic phobia anxiety | |
ST3GAL5 | 2 | p11.2 | GM3 synthase deficiency | Epilepsy and seizures | |
ST7 | 7 | q31.2 | SUPPRESSOR OF TUMORIGENICITY 7 | Autism spectrum | |
STAC3 | 12 | q13.3 | Native American myopathy | Arthrogryposis spectrum | |
STAMBP | 2 | p13.1 | Microcephaly-capillary malformation syndrome | Microcephaly | |
STAT1 | 2 | q32.2 | familial candidiasis (yeast infections) | Encephalitis | |
STAT3 | 17 | q21.2 | Crohn Disease | Irritable Bowel Disorders | |
STAT4 | 2 | q32.2-3 | Rheumatoid arthritis | Arthritis | |
STEAP3 | 2 | q14.2 | Hypochromic microcytic anemia with iron overload 2 (AHMIO2) | Copper metabolism defects | |
STIL | 1 | p32 | Autosomal recessive primary microcephaly | Microcephaly | |
STISS | 17 | q24.2 | Stankiewicz-Isidor syndrome | Autism spectrum | |
STRA6 | 15 | q24.1 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
STRADA | 17 | q23.3 | Polyhydramnios megalencephaly and symptomatic epilepsy | Epilepsy and seizures | |
STUB1 | 16 | p13.3 | Spinocerebellar ataxia autosomal recessive type 16 | Ataxia spectrum | |
STX1B | 16 | p11.2 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
STX1B | 16 | p11.2 | Genetic epilepsy with febrile seizures plus | Ataxia spectrum | |
STXBP1 | 9 | q34.11 | STXBP1 encephalopathy with epilepsy | Epilepsy and seizures | |
SUMO1 | 2 | q33 | Non-syndromic orofacial cleft 10 | Cleft lip / cleft palate | |
SUMO4 | 6 | q25.1 | Type 1 Diabetes | Diabetes | |
SUOX | 12 | q13.2 | Isolated sulfite oxidase deficiency | Ataxia spectrum | |
SYN1 | 23 | p11.3 | EPILEPSY X_LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS | Autism spectrum | |
SYN2 | 3 | p25 | Abnormal presynaptic function disorder | Autism spectrum | |
SYNE1 | 6 | q25.2 | Autosomal recessive cerebellar ataxia type 01 | Ataxia spectrum | |
SYNGAP1 | 6 | p21.32 | Mental retardation autosomal dominant 05 (MRD5) | Autism spectrum | |
SYNJ1 | 21 | q22.11 | Parkinson disease early onset | Parkinsonism |
SYT14 | 1 | q32.2 | Spinocerebellar ataxia autosomal recessive type 11 | Ataxia spectrum | |