Autism, Susceptibility To, 18; Auts18

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Genes related to Autism, Susceptibility To, 18; Auts18

CHD8

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Clinical Features

Top most frequent phenotypes and symptoms related to Autism, Susceptibility To, 18; Auts18

Intellectual disability
Seizures
Hypertelorism
Macrocephaly
Downslanted palpebral fissures
Atrial septal defect
Constipation
Autism
Pes planus
Anxiety

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Autism, Susceptibility To, 18; Auts18 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...) View the complete list with 63 more genes Panel complete gene list SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ZEB2, CASK, SETBP1, ADNP, RAB39B, UBE3C, BCKDK, SYNE1, ARID1B, ARX, PHF6, TMLHE, SETD2, CHD8, MBD5, CHD7, TUBA1A, VPS13B, KIRREL3, NTNG1, CREBBP, EHMT1, SMC3, CTNNB1, PTCHD1, DHCR7, NIPBL, TBL1XR1, DYRK1A, FGD1, TMEM231, FMR1, FOLR1, FOXG1, FOXP1, ALDH5A1, GABRB3, GRIN2B, AMT, HOXA1, HPRT1, AP1S2, L1CAM, LAMC3, MECP2, MEF2C, MID1, NHS, NRXN1, OPHN1, PAFAH1B1, ATRX, PNKP, PQBP1, PTEN, PTPN11, RAD21, RAI1, RELN Specificity 2 % Genes 100 %
AutismNext. By Ambry Genetics (United States). SCN2A, SLC6A8, SLC9A6, SMC1A, CDKL5, SYNGAP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3 , (...) View the complete list with 28 more genes Panel complete gene list SCN2A, SLC6A8, SLC9A6, SMC1A, CDKL5, SYNGAP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ZEB2, ADNP, RAB39B, ARID1B, POGZ, CHD2, CHD8, UPF3B, CHD7, ANKRD11, CREBBP, SMC3, KATNAL2, PTCHD1, DHCR7, NIPBL, DYRK1A, FMR1, FOXG1, FOXP1, GRIA3, GRIN2B, MECP2, MEF2C, NRXN1, PTEN, RAD21, RAI1 Specificity 3 % Genes 100 %
CustomNext: Neuro. By Ambry Genetics (United States). RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...) View the complete list with 176 more genes Panel complete gene list RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, TSC1, TSC2, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ARHGEF9, ZEB2, CASK, ADNP, PLCB1, DNAJC5, RAB39B, SCARB2, PRICKLE1, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, POGZ, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, TPP1, CLN3, CLN5, CLN6, CLN8, ANKRD11, NHLRC1, SATB2, VPS13B, KCTD7, SLC13A5, CREBBP, CRH, MED23, EHMT1, SMC3, CSTB, ZC4H2, CTSD, CTSF, KATNAL2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, MFSD8, DHCR7, NIPBL, WDR45, DLG3, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, PACS1, ATP13A2, CC2D1A, TUSC3, PNPO, PRRT2, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, EEF1A2, EPM2A, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, L1CAM, LAMP2, LGI1, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, ATP1A2, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, ALDH7A1, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1 Specificity 1 % Genes 100 %
Neurodevelopment-Expanded. By Ambry Genetics (United States). RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...) View the complete list with 176 more genes Panel complete gene list RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, TSC1, TSC2, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ARHGEF9, ZEB2, CASK, ADNP, PLCB1, DNAJC5, RAB39B, SCARB2, PRICKLE1, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, POGZ, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, TPP1, CLN3, CLN5, CLN6, CLN8, ANKRD11, NHLRC1, SATB2, VPS13B, KCTD7, SLC13A5, CREBBP, CRH, MED23, EHMT1, SMC3, CSTB, ZC4H2, CTSD, CTSF, KATNAL2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, MFSD8, DHCR7, NIPBL, WDR45, DLG3, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, PACS1, ATP13A2, CC2D1A, TUSC3, PNPO, PRRT2, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, EEF1A2, EPM2A, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, L1CAM, LAMP2, LGI1, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, ATP1A2, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, ALDH7A1, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1 Specificity 1 % Genes 100 %
IDNext. By Ambry Genetics (United States). RPL10, RPS6KA3, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYNGAP1, TBR1, TCF4 , (...) View the complete list with 120 more genes Panel complete gene list RPL10, RPS6KA3, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, NSD1, PCDH19, NLGN4X, NLGN3, ARHGEF9, ZEB2, CASK, ADNP, RAB39B, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, CHD2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, ANKRD11, SATB2, VPS13B, CREBBP, MED23, EHMT1, SMC3, ZC4H2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, NIPBL, WDR45, DLG3, IQSEC2, NEXMIF, DYNC1H1, DNM1, PACS1, CC2D1A, TUSC3, PNPO, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GAMT, GATM, GDI1, GNAO1, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNJ10, L1CAM, LAMP2, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1 Specificity 1 % Genes 100 %
Autism susceptibility 18 (sequence analysis of CHD8 gene). By CGC Genetics (Portugal). CHD8 Specificity 100 % Genes 100 %
Autism susceptibility 18 (sequence analysis of CHD8 gene). By CGC Genetics (Portugal). CHD8 Specificity 100 % Genes 100 %
Autism Spectrum Disorders via CHD8 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CHD8 Specificity 100 % Genes 100 %

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Sources and references

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