Xq25 Microduplication Syndrome

Table of contents:

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

Description

Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

Genes related to Xq25 Microduplication Syndrome

STAG2

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Clinical Features

Top most frequent phenotypes and symptoms related to Xq25 Microduplication Syndrome

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Abnormal facial shape
Low-set ears
Delayed speech and language development
Epicanthus
Frontal bossing

And another 27 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.

Alternative names

Xq25 Microduplication Syndrome Is also known as xq25 microtriplication, dup(x)(q25).

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.

Xq25 Microduplication Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...) View the complete list with 32 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 100 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...) View the complete list with 31 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 100 %
Myeloid Tumor Panel. By Centogene AG - the Rare Disease Company (Germany). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, ASXL1 , (...) View the complete list with 33 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 100 %
Hemato-oncology chromosomal microarray. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States). BLM, BRAF, BRCA1, BRCA2, SMARCB1, KDM5C, SMO, ABI1, SSX1, SSX2, SSX4, SS18, STAG2, STAT5B, TAF15, TCF12, TERT, TFE3, TFEB, TP53 , (...) View the complete list with 69 more genes Panel complete gene list BLM, BRAF, BRCA1, BRCA2, SMARCB1, KDM5C, SMO, ABI1, SSX1, SSX2, SSX4, SS18, STAG2, STAT5B, TAF15, TCF12, TERT, TFE3, TFEB, TP53, YWHAE, PATZ1, ASPSCR1, CIC, SS18L1, CCND1, CCNE1, SUFU, DICER1, CDH1, RABEP1, SETD2, FEV, MSI2, CREB3L1, CHN1, CREB1, CREB3L2, CDK12, CTNNB1, DDIT3, MALAT1, PBRM1, EP300, ERBB2, ERG, ETV1, ETV4, ETV6, EWSR1, EXT1, EXT2, ACSL3, FLI1, FOXO1, AKT1, AKT2, FUS, GATA3, ALK, HEY1, HIP1, FOXA1, DUX4, HOXA11, HRAS, APC, JUN, KDR, LMO1, MAP2K4, MLH1, MSH2, MYCN, NCOA1, NCOA2, NR4A3, NTRK3, PAX3, PAX7, PIK3CA, PIK3R1, PHOX2B, POU5F1, PPP2R1A, BAP1, PTCH1, PTCH2, RB1 Specificity 2 % Genes 100 %
Focus::Myeloid™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, ASXL1 , (...) View the complete list with 33 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 100 %
Focus::Myeloid™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, PHF6, ASXL1, CEBPA , (...) View the complete list with 29 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, PHF6, ASXL1, CEBPA, BCOR, CSF3R, SMC3, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 3 % Genes 100 %
Focus::MDS™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States). RUNX1, SF3B1, SRSF2, BRAF, STAG2, TP53, U2AF1, KDM6A, WT1, CBL, SETBP1, ASXL1, CEBPA, BCOR, ZRSR2, TET2, DNMT3A, ETV6, EZH2, FLT3 , (...) View the complete list with 6 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, STAG2, TP53, U2AF1, KDM6A, WT1, CBL, SETBP1, ASXL1, CEBPA, BCOR, ZRSR2, TET2, DNMT3A, ETV6, EZH2, FLT3, IDH1, IDH2, JAK2, KRAS, NRAS, PTPN11 Specificity 4 % Genes 100 %
Focus::AML™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States). RUNX1, SF3B1, SRSF2, BRAF, STAG2, TP53, U2AF1, KDM6A, WT1, CALR, CBL, SETBP1, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, BCORL1, TET2 , (...) View the complete list with 16 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, STAG2, TP53, U2AF1, KDM6A, WT1, CALR, CBL, SETBP1, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, ABL1, NPM1, NRAS, PTPN11 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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