Chromosome 2p16.3 Deletion Syndrome

Description

Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}.

Clinical Features

Phenotypes and symptoms related to Chromosome 2p16.3 Deletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Abnormality of the skeletal system
  • Autism
  • Autistic behavior
  • Schizophrenia

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.


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Chromosome 2p16.3 Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
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
Specificity
2 %
Genes
100 %
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC2A1, SLC9A6, CDKL5, TCF4, UBE3A, CNTNAP2, PCDH19, ZEB2, ARX, MBD5, EHMT1, CTNNB1, FOLR1, FOXG1, MECP2, MEF2C, NRXN1, OPHN1, ATRX, PNKP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Pitt-Hopkins-Like Syndrome 2 (NRXN1).

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

NRXN1
Specificity
100 %
Genes
100 %
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 %
Childhood Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, CDKL5, SYN1, UBE3A, CNTNAP2, CACNB4, ZEB2, EFHC1, PRICKLE1, MAGI2, CHRNA2, CHRNA4, CHRNB2, MBD5, TPP1, CLN3 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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