Autism Spectrum Disorders

Dmkbooks Advocacy Resources Directory > Developmental Disabilities > Autism Spectrum Disorders

Associated Genes

• A2M
• A2ML1
• AAAS
• AARS
• AARS2
• AASS
• ABAT
• ABCA1
• ABCA12
• ABCA2
• ABCB6
• ABCB7
• ABCC8
• ABCC9
• ABCD1
• ABCD3
• ABCD4
• ABHD12
• ABHD5
• AB12
• ACADM
• ACADS
• ACADSB
• ACAT1
• ACBD6
• ACD
• ACHE
• ACO2
• ACOX1
• ACP5
• ACSF3
• ACSL4
• ACTA1
• ACTB
• ACTG1
• ACTL6B
• ACTN1
• ACVR1
• ACY1
• ADA
• ADA2
• ADAM17
• ADAM22
• ADAMTS10
• ADAMTS17
• ADAMTS2
• ADAR
• ADAT3
• ADCY1
• ADCY3
• ADCY5
• ADD3
• ADGRG1
• ADGRV1
• ADK
• ADNP
• ADPRHL2
• ADRA2B
• ADSL
• AFF2- Fragile X Syndrome 2
• AFF3
• AFF4
• AFG3L2
• AGA
• AGAP2
• AGK
• AGMO
• AGO1
• AGO3
• AGO4
• AGPAT2
• AGRN
• AGTR2
• AHCY
• AHDC1
• AHI1
• AHNAK
• AIFMQ
• AIMP1
• AIMP2
• AKAP9
• AKT1
• AKT3
• ALAD
• ALDH18A1
• ALDH1A3
• ALDH3A2
• ALDH4A1
• ALDH5A1
• ALDH6A1
• ALDH7A1
• ALDOA
• ALDOB
• ALG1
• ANKRD11- 16q24.3
• ANK2
• ARX- Neurodevelopmental Disorders
• ASH1L
• ASTN2- 9q33.1
• BRAF-Noonan Syndrome, Cardiofaciocutaneous Syndrome
• BRWD3
• BCL11A
• CACNA1C-Timothy Syndrome
• CACNA1H- 16p13.3
• CADM1-11q23.3
• CAMK2A
• CAMK2B
• CC2D1A
• CDKL5-Infantile Spasms; Early Seizure Variant Rett Syndrome
• CELFA
• CHAMP1
• CHD2
• CHD3
• CHD7- CHARGE Syndrome
• CHD8
• CIC
• CREBBP
• C12ORF4
• CNOT3
• CNTN4-3p26.3-26.2
• CNTNAP2-7q35-36.1-Autosomal Recessive Intellectual Disability; Pitt-Hopkins
• CNTNAP5-2q14.3
• CNTN6
• COL4A3BP
• CSNK2A1
• CTNNB1
• CTNND2
• CXCR3-Xq13.1
• DHCR7- Smith-Lemli-Opitz Syndrome
• DIAPH3-13q21.2
• DLGAP2-8p23.3
• DLL1
• DPP6-7q35-36.1
• DPP10-7q36.2
• DYRK1A
• EHMT1
• EIF3F
• ELP2
• EN2
• FABP5-8q21.13
• FABP7-6q22.31
• FBXO11
• FBXO40-3q13.33
• FGD1-Aarskog Scott Syndrome; Syndromic X-linked Intellectual Disability
• FMR1-Fragile X Syndrome
• FOLR1-Cerebral Folate Transport Deficiency
• FOXG1- Congenital Variant Rett Syndrome
• FOXP1-3p13- Intellectual Disability with Language Impairment with or without Autistic Features
• FOXP2- Related Speech- Language Disorders
• FRMPD4-Xp22.1
• FTSJ1- X-linked Intellectual Disability
• GABRB3
• GAMT
• GLRA2-Xp22.2
• GRIA2
• GRIA3
• GRIND2A-16p13.2
• GRIND2B-12p13.1
• GRPR-Xp22.2
• HECW2
• HNRNPH2-Xq22.1
• KCNMA1- 10q22.3
• KDM5C
• KMT2C
• KMT2E
• KMT5B
• L1CAM- Hydrocephalus with Aqueductal Stenosis; MASA Syndrome
• MAGEL2
• MAOA
• MBD1-18q21.1
• MBD3-19p13.3
• MBD4-3q21.3
• MBD5-MBD5 Haploinsufficiency
• MBOAT7
• MDGA2-14q21.3
• MECP2-Xq28- Rett Syndrome; Preserved Speech Variant Rett Syndrome; MECP2-Related Epileptic Encephalopathy in males; X-linked Intellectual Disabilities.
• MED12
• MED13
• MEF2C-5q14.3-Intellectual Disabilities; Stereotypic Movements; Epilepsy; Cerebral Malformations;
• MT-ATP8
• MT-CO1
• MT-CO2
• MT-CO3
• MT-CYB
• MT-ND1
• MT-ND2
• MT-ND3
• MT-ND4
• MT-ND4L
• MT-ND5
• MT-ND6
• MT-RNR1
• MT-RNR2
• MT-TA
• MT-TC
• MT-TD
• MT-TE
• MT-TF
• MT-TG
• MT-TH
• MT-TI
• MT-TK
• MT-TL1
• MT-TL2
• MT-TM
• MT-TN
• MT-TP
• MT-TQ
• MT-RT
• MT-TS1
• MT-TS2
• MT-TT
• MT-TV
• MT-TW
• MT-TY
• NBEA
• NF1-Neurofibromatosis 1
• NFIB
• NIPBL-Cornelia de Lange Syndrome
• NLGN1-3q26.31
• NLGN3-Xq13.1 – Susceptibility to autism and Asperger’s
• NLGN4X- Xp22.32-22.31- X-Linked Intellectual Disability Susceptibility to Autism.
• NOS1AP-1q23.3
• NRXN1-2p16.3-Autosomal Recessive Intellectual Disabilities; Pitt- Hopkins
• NRXN2-11q13.1
• NSD1
• OPHN1
• PAK3
• PCDH10-4q28.3
• PCDH19-Xq22.1-Epilepsy and Intellectual disabilities limited to females.
• PCDH9-13q21.32
• PDZD4-Xq22.1
• PHIP
• POGZ
• PPP1R3F-Xp11.23
• PTCHD1-Xp22.11-Susceptibility to Autism
• PTEM
• PTEN-10q23.31-PTEN Hamartoma Tumor Syndromes
• PTPN11- Noonan Syndrome
• RAB39B-Xq28
• RAI1-Smith-Magenis Syndrome
• RIMS3-1p34.2
• RORB
• RPL10-Xq28
• SETBP1
• SETD2
• SETD5
• SH3KBP1-Xp22.12
• SHANK2-11q13.3-13.4-Susceptibility to Autism
• SHANK3-22q13.33-Phelan McDermid Syndrome
• SLC2A1-GLUT1 Deficiency
• SLC6A8- Creatine Transporter Deficiency
• SLC9A6- Christianson Syndrome
• SLC9A9-3q24
• SMC1A-Cornelia de Lange Syndrome
• SYN1-Xp11.3-11.23
• TANC2
• TBR1
• TCF4-Pitt-Hopkins Syndrome
• TCF12
• TCF20
• TCF7L2
• TRIP12
• TSC1-Tuberous Sclerosis
• TSC2-Tuberous Sclerosis
• TSPAN7-Xp11.4
• UBE2A
• UBE3A- Angelman Syndrome
• UPF3B
• VAMP2
• WASF1
• WDFY3
• WNK3-Xp11.22
• YY1
• ZDHHC9
• ZEB2-Mowat-Wilson Syndrome
• ZMIZ1
• ZNF292
• ZNF4- X-linked Intellectual Disability
• ZSWIM6
• 16p11.2 Deletion
• 15q11.2-Prader-Will Syndrome, Angelman Syndrome

Sources: Blueprint Genetics, Ambry Genetics, NCBI, Evicore, Prevention Genetics