AutismKB

Syndromic Autism Gene List (Chromosome View)

Some autism cases are observed in the context of a recognized syndrome (e.g., the fragile X syndrome) with known causal genes. These 99 genes were classified as syndromic autism genes in AutismKB.
This dataset comes from Catalina Betancur's review published in Brain Research in 2011(Betancur, 2011)

Refrence:
Betancur, C. (2011). Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 1380, 42-77.

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene_ID Gene_Symbol Band Gene Name Inheritance Disorder OMIM Detail
AutG8195 MKKS 20p12 McKusick-Kaufman syndrome AR Bardet-Biedl syndromeBardet-Biedl syndrome 6 (209900)
  • Description: Bardet-Biedl syndrome is a ciliopathy, like Joubert syndrome.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 12471214; 15637713;
AutG158 ADSL 22q13.1|22q13.2 adenylosuccinate lyase AR Adenylosuccinate lyase deficiencyAdenylosuccinase deficiency (103050)
  • Description: Adenylosuccinate lyase deficiency; ~50% present autism/autistic features.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 6150139; 16839792; 11392513; 12833398; 21625931;
AutG55624 POMGNT1 1p34.1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase AR Muscle-eye-brain disease (MEB)Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (253280)
  • Description: Muscle-eye-brain disease (congenital muscular dystrophy, structural eye abnormalities and lissencephaly).
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 15938569; 17906881;
AutG6121 RPE65 1p31 retinal pigment epithelium-specific protein 65kDa AR Leber congenital amaurosisLeber congenital amaurosis 2 (204100)
  • Description: Leber congenital amaurosis.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 20683928; 12960219;
AutG501 ALDH7A1 5q31 aldehyde dehydrogenase 7 family, member A1 AR Pyridoxine-dependent epilepsyEpilepsy, pyridoxine-dependent (266100)
  • Description: Pyridoxine-dependent epilepsy (antiquitin deficiency) is a rare disorder characterized by early onset seizures that are controlled by pyridoxine (vitamin B6) Among 64 published ALDH7A1 mutations, at least 3 have been reported with autism or autistic features.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 19128417; 11108513; 20554659;
AutG7915 ALDH5A1 6p22 aldehyde dehydrogenase 5 family, member A1 AR Succinic semialdehyde dehydrogenase deficiencySuccinic semialdehyde dehydrogenase deficiency (271980)
  • Description: Succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria); 12% (4/33) have autistic features.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 18622364; 12743223;
AutG54806 AHI1 6q23.3 Abelson helper integration site 1 AR Leber congenital amaurosisLeber congenital amaurosis 2 (204100)
  • Description: Joubert syndrome 3. Joubert syndrome is a clinically and genetically heterogeneous group of ciliopathies characterized by cerebellar ataxia, ID and breathing abnormalities, sometimes including retinal dystrophy and renal disease. ASD is a relatively frequent finding in patients with Joubert syndrome, present in 13-36% of patients. Ten genes have been implicated in Joubert syndrome, but so far, only 4 have been reported to be mutated in subjects with ASD/autistic traits.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 10511335; 15633174; 2015333;
AutG3198 HOXA1 7p15.3 homeobox A1 AR Bosley-Salih-Alorainy syndromeBosley-Salih-Alorainy syndrome (601536)
  • Description: HOXA1 syndrome, Bosley-Salih-Alorainy variant (horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, cardiovascular malformations, ID and ASD); 2/9 patients meet criteria for autism.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 17875913;
AutG157680 VPS13B 8q22.2 vacuolar protein sorting 13 homolog B (yeast) AR Cohen syndromeCohen syndrome (216550)
  • Description: Cohen syndrome (ID, microcephaly, facial dysmorphism, obesity, retinal dystrophy, and neutropenia); 49% (22/45) meet criteria for autism.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 15793684; 11665826; 12690562; 15165433; 21418059;
AutG57502 NLGN4X Xp22.33 neuroligin 4, X-linked XL X-linked Mental retardationMental retardation, X-linked (300495)
  • Description: Non-syndromic X-linked ID and/or ASD; both mutations and deletions have been reported.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 17910064; 12669065; 18413370; 14963808; 18231125; 18252227;
AutG4281 MID1 Xp22 midline 1 (Opitz/BBB syndrome) XL Opitz syndromeOpitz G syndrome, type I (300000)
  • Description: Opitz syndrome (Opitz/BBB syndrome).
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 11030761; 18697196;
AutG4810 NHS Xp22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) XL Nance-Horan syndromeNance-Horan syndrome (302350)
  • Description: Nance-Horan syndrome (congenital cataracts and dental anomalies).
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 9268101;
AutG6792 CDKL5 Xp22 cyclin-dependent kinase-like 5 XL infantile spasmsEpileptic encephalopathy, early infantile, 2 (300672)
  • Description: Rett-like syndrome with infantile spasms and severe ID in female patients.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 16611748; 19241098; 15492925;
AutG170302 ARX Xp21 aristaless related homeobox XL X-linked mental retardationMental retardation, X-linked 36/43/54 (300419)
  • Description: Large spectrum of ID phenotypes, including X-linked lissencephaly and abnormal genitalia, West syndrome, Partington syndrome, and non-syndromic ID.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 16523516; 15200506; 19085879; 12376946;
AutG11141 IL1RAPL1 Xp22.1-p21.3 interleukin 1 receptor accessory protein-like 1 XL X-linked mental retardationMental retardation, X-linked, 21/34 (300143)
  • Description: Non-syndromic X-linked ID and/or ASD.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 18005360; 20531469; 18801879;
AutG1756 DMD Xp21.2 dystrophin XL Duchenne muscular dystrophyDuchenne muscular dystrophy (310200)
  • Description: Muscular dystrophy, Duchenne and Becker types; in one study, 19% (16/85) met criteria for ASD.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 20358624; 18354150; 19818935; 6746506; 11725514; 16417872; 18056690; 12757359; 6746506;
AutG4693 NDP Xp11.4 Norrie disease (pseudoglioma) XL Norrie diseaseNorrie disease (310600)
  • Description: Norrie disease (occuloacousticocerebral dysplasia).
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 18817988; 7627181;
AutG10084 PQBP1 Xp11.23 polyglutamine binding protein 1 XL Renpenning syndromeRenpenning syndrome (309500)
  • Description: Large spectrum of ID phenotypes, including Renpenning syndrome (microcephaly, short stature, small testes and dysmorphic features) and non-syndromic ID.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 16493439; 15782410;
AutG24140 FTSJ1 Xp11.23 FtsJ homolog 1 (E. coli) XL Non-syndromic X-linked IDMental retardation, X-linked-9 (309549)
  • Description: Non-syndromic X-linked ID.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 17333282;
AutG778 CACNA1F Xp11.23 calcium channel, voltage-dependent, L type, alpha 1F subunit XL X-linked incomplete congenital stationary night blindness (CSNB2)Night blindness, congenital stationary, X-linked, type 2A (300071)
  • Description: X-linked incomplete congenital stationary night blindness, severe form.
  • Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
  • Reference(s): 15897456;
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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