Monosomy 9q22.3

Table of contents:

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

Description

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

Genes related to Monosomy 9q22.3

PTCH1

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Clinical Features

Top most frequent phenotypes and symptoms related to Monosomy 9q22.3

Intellectual disability
Seizures
Global developmental delay
Strabismus
Muscular hypotonia
Cataract
Low-set ears
Feeding difficulties
Epicanthus
Macrocephaly

And another 36 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

Monosomy 9q22.3 Is also known as microdeletion 9q22.3.

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.

Monosomy 9q22.3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1 Specificity 6 % Genes 100 %
Hereditary Brain, CNS, PNS Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1 Specificity 6 % Genes 100 %
Comprehensive Hereditary Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...) View the complete list with 39 more genes Panel complete gene list RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, ENG, FH, GATA2, ALK, GPC3, APC, SMAD4, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF2, ATM, PAX5, PMS1, PMS2, PHOX2B, PRF1, PRKAR1A, BARD1, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RET Specificity 2 % 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 Panel complete gene list SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, TGIF1, TSC1, TSC2, TUBB2A, UBE3A, ZIC2, CNTNAP2, CACNA1A, CACNA2D1, CACNB4, PCDH19, SLC25A19, ARHGEF9, ZEB2, CASK, CASR, TSEN34, VANGL1, ARFGEF2, PLCB1, PCNT, EFHC1, LIAS, SCARB2, PRICKLE1, CDON, CENPJ, NDE1, EXOSC3, ARX, PHF6, ATP6AP2, DEPDC5, CDK5RAP2, KCNT1, MAGI2, ASPM, NALCN, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, FLVCR2, CLCN2, PRICKLE2, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, ABAT, SLC13A5, WDR62, NECAP1, KANSL1, CSTB, CTSD, DCX, TSEN54, TSEN2, MFSD8, SZT2, IQSEC2, ADSL, TBC1D24, CEP152, PNPO, PRRT2, DYRK1A, EMX2, EPM2A, FLNA, FOLR1, FOXG1, FOXH1, MTOR, ABCB1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GATM, GLI2, GOSR2, ADGRG1, GRIN1, GRIN2A, GRIN2B, HNRNPU, KCNA1, KCNAB1, KCNJ10, KCNJ11, KCNQ2, KCNQ3, LGI1, MCPH1, MECP2, MEF2C, MTHFR, NDUFA1, NEDD4L, NODAL, ATP1A2, NRXN1, OPHN1, PAFAH1B1, ALDH7A1, ATR, PIGA, PNKP, POLG, PPT1, PTCH1, QARS, RELN Specificity 1 % Genes 100 %
NGS Overgrowth/Macrocephaly Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN Specificity 8 % Genes 100 %
Inherited Cancer Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...) View the complete list with 28 more genes Panel complete gene list BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, FH, APC, SMAD4, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PMS2, PRKAR1A, BAP1, BARD1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET Specificity 3 % Genes 100 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...) View the complete list with 86 more genes Panel complete gene list SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, ARFGEF2, PCNT, RAB3GAP1, CDON, RAB3GAP2, CENPJ, EXOSC3, FKRP, ARX, PHF6, IER3IP1, CDK5RAP2, ASPM, POMGNT1, DISP1, POMT2, UPF3B, TUBA1A, TUBB3, RARS2, AHI1, COL4A1, KIF1BP, WDR62, TMEM216, ARL13B, CUL4B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, DCX, TSEN54, TMEM67, TSEN2, DHCR7, NIPBL, CEP290, DLL1, RPGRIP1L, CC2D2A, CEP152, KIF7, SRPX2, TUBB2B, EMX2, EOMES, EZH2, FKTN, FGF8, FLNA, FOXG1, FOXH1, GAS1, GLI2, GLI3, ADGRG1, HESX1, L1CAM, LAMC3, LARGE1, MCPH1, MECP2, MKS1, MYCN, NFIX, NODAL, NPHP1, OPHN1, OTX2, PAFAH1B1, ATR, ATRX, PIK3CA, POMT1, PQBP1, PTCH1, PTEN, RBBP8, RELN Specificity 1 % Genes 100 %
Holoprosencephaly. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SHH, SIX3, TGIF1, ZIC2, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL, PTCH1 Specificity 8 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH Rare Disease Search Engine

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