Chromosome 17p13.3, Centromeric, Duplication Syndrome

Description

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 17p13.3, Centromeric, Duplication Syndrome

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Growth delay
  • Failure to thrive
  • Motor delay
  • Muscular hypotonia
  • Abnormal facial shape
And another 32 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Chromosome 17p13.3, Centromeric, Duplication Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lissencephaly (NGS panel for 12 genes).

By CGC Genetics in Portugal.

TUBA1A, ARX, POMT2, POMT1, DCX, NDE1, RELN, PAFAH1B1, CDK5, KATNB1, LAMB1, YWHAE
Specificity
17 %
Genes
100 %
Miller-Dieker Lissencephaly Syndrome via YWHAE Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

YWHAE
Specificity
100 %
Genes
50 %
Lissencephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, YWHAE
Specificity
29 %
Genes
100 %
Miller Dieker lissencephaly syndrome.

By Centogene AG - the Rare Disease Company in Germany.

YWHAE
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
50 %
Lissencephaly.

By Praxis fuer Humangenetik Wien in Austria.

YWHAE
Specificity
100 %
Genes
50 %
Lissencephaly.

By MedGene in Slovakia.

YWHAE
Specificity
100 %
Genes
50 %
LISSENCEPHALY.

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

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, YWHAE
Specificity
29 %
Genes
100 %
YWHAE.

By Fulgent Genetics Fulgent Genetics in United States.

YWHAE
Specificity
100 %
Genes
50 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Lissencephaly Panel.

By Blueprint Genetics in Finland.

ATP6V0A2, TUBA1A, ARX, FKTN, POMT1, ISPD, POMGNT2, LARGE1, DCX, RELN, PAFAH1B1, TUBB2B, ACTB, ACTG1, VLDLR, KATNB1, TUBG1, LAMB1, YWHAE
Specificity
11 %
Genes
100 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

TUBB3, ATP6V0A2, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, PHGDH, L1CAM, DYNC1H1, POMT1, ISPD, LAMA2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2 , (...)

View the complete list with 38 more genes
Specificity
4 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
50 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
50 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
50 %
Autsim Panel.

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

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Comprehensive Brain Malformation Panel.

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

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Epilepsy/Seizure.

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

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
50 %
Cerebral Cortical Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, DCX, RAB3GAP1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
LIS1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PAFAH1B1
Specificity
100 %
Genes
50 %
Lissencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
LIS1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

PAFAH1B1
Specificity
100 %
Genes
50 %
Classic Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBA1A, ARX, DCX, RELN, PAFAH1B1, ACTB, ACTG1, VLDLR
Specificity
13 %
Genes
50 %
Comprehensive Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, RXYLT1, LARGE1, B3GALNT2, DCX, RELN, PAFAH1B1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Miller-Dieker syndrome.

By Cytogenetics Laboratory Indiana University School of Medicine in United States.

PAFAH1B1
Specificity
100 %
Genes
50 %
LIS1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PAFAH1B1
Specificity
100 %
Genes
50 %
Comprehensive Brain Malformations Panel.

By GeneDx in United States.

TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Cortical Brain Malformations Panel.

By GeneDx in United States.

TUBB3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, ARFGEF2, DCX, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Lissencephaly Panel.

By GeneDx in United States.

ATP6V0A2, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, PAFAH1B1, ACTB , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
PAFAH1B1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PAFAH1B1
Specificity
100 %
Genes
50 %
PAFAH1B1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PAFAH1B1
Specificity
100 %
Genes
50 %
Lissencephaly 1 (LIS1, sequence analysis of PAFAH1B1 gene).

By CGC Genetics in Portugal.

PAFAH1B1
Specificity
100 %
Genes
50 %
Lissencephaly 1 (deletion/duplication analysis of PAFAH1B1 gene).

By CGC Genetics in Portugal.

PAFAH1B1
Specificity
100 %
Genes
50 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
50 %
Classic lissencephaly via the PAFAH1B1/LIS1 Gene.

By PreventionGenetics PreventionGenetics in United States.

PAFAH1B1
Specificity
100 %
Genes
50 %
Lissencephaly and related disorders NGS test.

By Connective Tissue Gene Tests in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Lissencephaly and related disorders Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Lissencephaly and related disorders Comprehensive test.

By Connective Tissue Gene Tests in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Lissencephaly core Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, CDK5, KATNB1, LAMB1, TMTC3
Specificity
10 %
Genes
50 %
Lissencephaly core Comprehensive test.

By Connective Tissue Gene Tests in United States.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, CDK5, KATNB1, LAMB1, TMTC3
Specificity
10 %
Genes
50 %
Lissencephaly core NGS test.

By Connective Tissue Gene Tests in United States.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, CDK5, KATNB1, LAMB1, TMTC3
Specificity
10 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Lissencephaly.

By MGZ Medical Genetics Center in Germany.

TUBA1A, DCX, RELN, PAFAH1B1, TUBB2B, TUBG1, KIF2A
Specificity
15 %
Genes
50 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
50 %
Microcephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Lissencephaly type 1.

By Centogene AG - the Rare Disease Company in Germany.

PAFAH1B1
Specificity
100 %
Genes
50 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Single gene testing PAFAH1B1.

By CeGaT GmbH in Germany.

PAFAH1B1
Specificity
100 %
Genes
50 %
Test for LIS1-Associated Lissencephaly/Subcortical Band Heterotopia.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

PAFAH1B1
Specificity
100 %
Genes
50 %
Microcephaly.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
50 %
Lissencephaly 1.

By Praxis fuer Humangenetik Wien in Austria.

PAFAH1B1
Specificity
100 %
Genes
50 %
LIS1 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

PAFAH1B1
Specificity
100 %
Genes
50 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
Lissencephaly 1.

By MedGene in Slovakia.

PAFAH1B1
Specificity
100 %
Genes
50 %
Lissencephaly: PAFAH1B1 (LIS1) gene sequence analysis.

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

PAFAH1B1
Specificity
100 %
Genes
50 %
Lissencephaly: PAFAH1B1 (LIS1), DCX, POMT1, POMGnT1 and FLNA genes deletions-duplications analysis (MLPA).

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

DCX, PAFAH1B1
Specificity
50 %
Genes
50 %
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia: PAFAH1B1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAFAH1B1
Specificity
100 %
Genes
50 %
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia: PAFAH1B1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAFAH1B1
Specificity
100 %
Genes
50 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Brain Malformations: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
50 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Brain Malformations: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Lissencephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, DCX, RELN, PAFAH1B1, ACTB, ACTG1, VLDLR
Specificity
8 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
Microcephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
PAFAH1B1.

By Fulgent Genetics Fulgent Genetics in United States.

PAFAH1B1
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
50 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Lissencephaly type 1.

By Bioarray in Spain.

PAFAH1B1
Specificity
100 %
Genes
50 %
Isolated Lissencephaly, Sequencing PAFAH1B1 (LIS1) Gene.

By Reference Laboratory Genetics in Spain.

PAFAH1B1
Specificity
100 %
Genes
50 %
Lissencephaly, Deletions-Duplication (MLPA) (PAFAH1B1 and DCX)Genes.

By Reference Laboratory Genetics in Spain.

DCX, PAFAH1B1
Specificity
50 %
Genes
50 %
Lissencephaly, Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1
Specificity
17 %
Genes
50 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.

By Reference Laboratory Genetics in Spain.

TUBB3, TUBA1A, ARX, FOXG1, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, LARGE1, ASPM, COL4A1, ARFGEF2, DCX, NDE1, RELN, TUBA8 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %

Alternate names

Chromosome 17p13.3, Centromeric, Duplication Syndrome Is also known as ;17p13.3 duplication syndrome; dup(17)(p13.3); trisomy 17p13.3.



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