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
AutG340533 KIAA2022 Xq13.3 KIAA2022 XL X-linked IDMental retardation, nonsyndromic, X-linked (300524)
  • Description: X-linked ID, progressive quadriparesia, and autism.
  • Evidence Level: Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 15466006;
AutG2263 FGFR2 10q26 fibroblast growth factor receptor 2 AD Apert syndromeApert syndrome (101200)
  • Description: Apert syndrome.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 12664274;
AutG3265 HRAS 11p15.5 v-Ha-ras Harvey rat sarcoma viral oncogene homolog AD Costello syndromeCostello syndrome (218040)
  • Description: Costello syndrome.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 16443854;
AutG79944 L2HGDH 14q21.3 L-2-hydroxyglutarate dehydrogenase AR L-2-hydroxyglutaric aciduriaL-2-hydroxyglutaric aciduria (236792)
  • Description: l-2-hydroxyglutaric aciduria.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 17981416;
AutG2628 GATM 15q21.1 glycine amidinotransferase (L-arginine:glycine amidinotransferase) AR glycine amidinotransferase (AGAT) deficiencyAGAT deficiency (612718)
  • Description: Arginine:glycine amidinotransferase (AGAT) deficiency (brain creatine deficiency, synthesis defect) has been described in only three families with 6 affected; autistic features were reported in one.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 12468279;
AutG3000 GUCY2D 17p13.1 guanylate cyclase 2D, membrane (retina-specific) AR Leber congenital amaurosisLeber congenital amaurosis 1 (204000)
  • Description: Leber congenital amaurosis.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 20683928;
AutG4867 NPHP1 2q13 nephronophthisis 1 (juvenile) AR Joubert syndrome 4Joubert syndrome 4 (609583)
  • Description: Joubert syndrome 4 and nephronophthisis (see AHI1 below, 6q23.3).
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 17409309;
AutG686 BTD 3p25 biotinidase AR Biotinidase deficiencyBiotinidase deficiency (253260)
  • Description: Biotinidase deficiency.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 13680408;
AutG8492 PRSS12 4q28.1 protease, serine, 12 (neurotrypsin, motopsin) AR Autosomal recessive non-syndromic IDMental retardation, autosomal recessive 1 (249500)
  • Description: Autosomal recessive non-syndromic ID; mutated in 3 consanguineous families from North Africa, including one with two brothers with autism and ID.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): -;
AutG10585 POMT1 9q34.1 protein-O-mannosyltransferase 1 AR Walker-Warburg syndromeMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (609308)
  • Description: Limb-girdle muscular dystrophy with ID; Walker-Warburg syndrome.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 16717220;
AutG5009 OTC Xp21.1 ornithine carbamoyltransferase XL Ornithine transcarbamylase deficiencyOrnithine transcarbamylase deficiency (311250)
  • Description: Ornithine transcarbamylase deficiency.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 15798789;
AutG8573 CASK Xp11.4 calcium/calmodulin-dependent serine protein kinase (MAGUK family) XL X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar hypoplasiaMental retardation and microcephaly with pontine and cerebellar hypoplasia (300749)
  • Description: Variable phenotypes, ranging from non-syndromic mild ID to severe ID with microcephaly, brain malformations, congenital nystagmus and dysmorphic facial features.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 20029458;
AutG641339 ZNF674 Xp11.3 zinc finger protein 674 XL X-linked mental retardationMental retardation, X-linked 92 (300851)
  • Description: Non-syndromic X-linked ID.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 16385466;
AutG6853 SYN1 Xp11.23 synapsin I XL epilepsy, learning difficulties, macrocephaly, and aggressive behaviourEpilepsy, X-linked, with variable learning disabilities and behavior disorders (300491)
  • Description: X-linked epilepsy with variable learning disabilities and behavior disorders.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 14985377;
AutG347344 ZNF81 Xp11.23 zinc finger protein 81 XL X-linked mental retardationMental retardation, X-linked 45 (300498)
  • Description: Non-syndromic X-linked ID.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 15121780;
AutG8242 JARID1C Xp11.22-p11.21 lysine (K)-specific demethylase 5C XL non-syndromic IDMental retardation, X-linked, syndromic, JARID1C-related (300534)
  • Description: Large spectrum of phenotypes including ID with microcephaly, spasticity, short stature, epilepsy, and facial anomalies, as well as non-syndromic ID.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 18203167;
AutG8243 SMC1A Xp11.22-p11.21 structural maintenance of chromosomes 1A XL Cornelia de Lange syndromeCornelia de Lange syndrome 2 (300590)
  • Description: Cornelia de Lange syndrome (see NIPBL above, 5p13.2).
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 17273969;
AutG3920 LAMP2 Xq24 lysosomal-associated membrane protein 2 XL Danon diseaseDanon disease (300257)
  • Description: Danon disease (X-linked vacuolar cardiomyopathy and myopathy) is a lysosomal glycogen storage disorder.
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 18555174;
AutG84295 PHF6 Xq26.3 PHD finger protein 6 XL Borjeson-Forssman-Lehmann syndromeBorjeson-Forssman-Lehmann syndrome (301900)
  • Description: Borjeson-Forssman-Lehmann syndrome (ID, epilepsy, and hypogonadism).
  • Evidence Level: Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
  • Reference(s): 19187102;
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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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