Autism, Susceptibility To, 16; Auts16

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 heterogeneity of autism, see {209850}.

Clinical Features

Phenotypes and symptoms related to Autism, Susceptibility To, 16; Auts16

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Atrial septal defect
  • Autism
  • Autistic behavior

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.

Alternative names

Autism, Susceptibility To, 16; Auts16 Is also known as autism with or without seizures.

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, 16; Auts16 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autism Spectrum Disorders 53-Gene Panel.

By Center for Human Genetics, Inc (United States).

RPL10, SYN1, SYNGAP1, TSPAN7, PCDH10, CNTNAP2, SH3KBP1, CACNA1H, PCDH19, NLGN4X, NLGN3, NLGN1, SHANK3, SHANK2, WNK3, DIAPH3, RAB39B, NOS1AP, ASTN2, CNTNAP5 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders.

By Asper Biogene Asper Biogene LLC (Estonia).

RPL10, SCN1A, SCN2A, BRAF, SLC6A4, SLC6A8, CDKL5, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1, PCDH19, NLGN4X, SHANK3, ZEB2 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Autism.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

RPL10, SLC25A12, SLC6A4, UBE3A, CNTNAP2, FOXP2, CACNA1C, CACNA1F, CACNA1H, PCDH19, NLGN4X, NLGN3, SHANK3, ARX, SLC9A9, CNTN4, PTCHD1, EN2, GABRA5, GABRB3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RPL10, BDNF, SCN1A, SCN2A, BRAF, SLC6A4, SLC9A6, SMC1A, KDM5C, SNRPN, SOX5, SPAST, ST7, STK3, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
SLC9A9.

By Fulgent Genetics Fulgent Genetics (United States).

SLC9A9
Specificity
100 %
Genes
100 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics (Spain).

RPL10, BDNF, SCN1A, SCN2A, BRAF, SLC6A4, SLC9A6, SMC1A, KDM5C, SNRPN, SOX5, SPAST, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A, CNTNAP2, FOXP2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

BRAF, TCF7L2, TGFBR2, TP53, CASP8, TCERG1, GALNT17, FBXW7, ACVR1B, CDC27, ATP6V0D2, SLC9A9, CTNNB1, DCC, DMD, EP300, ERBB2, AKT1, FZD3, GPC6 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %

You can get up to 0 more panels with our dedicated tool

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Sources and references

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OMIM Rare Disease Search Engine

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