GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Jan 20, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000240285.1

Allele description [Variation Report for GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3]

GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3

Genes:
  • BCL2L2:BCL2 like 2 [Gene - OMIM - HGNC]
  • BCL2L2-PABPN1:BCL2L2-PABPN1 readthrough [Gene - HGNC]
  • CEBPE:CCAAT enhancer binding protein epsilon [Gene - OMIM - HGNC]
  • CMTM5:CKLF like MARVEL transmembrane domain containing 5 [Gene - OMIM - HGNC]
  • DCAF11:DDB1 and CUL4 associated factor 11 [Gene - OMIM - HGNC]
  • EMC9:ER membrane protein complex subunit 9 [Gene - HGNC]
  • HAUS4:HAUS augmin like complex subunit 4 [Gene - OMIM - HGNC]
  • KHNYN:KH and NYN domain containing [Gene - HGNC]
  • LRP10:LDL receptor related protein 10 [Gene - OMIM - HGNC]
  • NDRG2:NDRG family member 2 [Gene - OMIM - HGNC]
  • NEDD8:NEDD8 ubiquitin like modifier [Gene - OMIM - HGNC]
  • NEDD8-MDP1:NEDD8-MDP1 readthrough [Gene - HGNC]
  • NOP9:NOP9 nucleolar protein [Gene - OMIM - HGNC]
  • NOVA1:NOVA alternative splicing regulator 1 [Gene - OMIM - HGNC]
  • NYNRIN:NYN domain and retroviral integrase containing [Gene - HGNC]
  • OSGEP:O-sialoglycoprotein endopeptidase [Gene - OMIM - HGNC]
  • OXA1L:OXA1L mitochondrial inner membrane protein [Gene - OMIM - HGNC]
  • POTEM:POTE ankyrin domain family member M [Gene - HGNC]
  • RAB2B:RAB2B, member RAS oncogene family [Gene - OMIM - HGNC]
  • REC8:REC8 meiotic recombination protein [Gene - OMIM - HGNC]
  • RBM23:RNA binding motif protein 23 [Gene - HGNC]
  • RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]
  • REM2:RRAD and GEM like GTPase 2 [Gene - OMIM - HGNC]
  • RABGGTA:Rab geranylgeranyltransferase subunit alpha [Gene - OMIM - HGNC]
  • ARHGEF40:Rho guanine nucleotide exchange factor 40 [Gene - OMIM - HGNC]
  • SUPT16H:SPT16 homolog, facilitates chromatin remodeling subunit [Gene - OMIM - HGNC]
  • TRA:T cell receptor alpha locus [Gene - HGNC]
  • TINF2:TERF1 interacting nuclear factor 2 [Gene - OMIM - HGNC]
  • TOX4:TOX high mobility group box family member 4 [Gene - OMIM - HGNC]
  • ABHD4:abhydrolase domain containing 4 [Gene - HGNC]
  • AP1G2:adaptor related protein complex 1 subunit gamma 2 [Gene - OMIM - HGNC]
  • ADCY4:adenylate cyclase 4 [Gene - OMIM - HGNC]
  • AJUBA:ajuba LIM protein [Gene - OMIM - HGNC]
  • ANG:angiogenin [Gene - OMIM - HGNC]
  • ACIN1:apoptotic chromatin condensation inducer 1 [Gene - OMIM - HGNC]
  • APEX1:apurinic/apyrimidinic endodeoxyribonuclease 1 [Gene - OMIM - HGNC]
  • CDH24:cadherin 24 [Gene - HGNC]
  • CARMIL3:capping protein regulator and myosin 1 linker 3 [Gene - OMIM - HGNC]
  • CTSG:cathepsin G [Gene - OMIM - HGNC]
  • CIDEB:cell death inducing DFFA like effector b [Gene - OMIM - HGNC]
  • CBLN3:cerebellin 3 precursor [Gene - OMIM - HGNC]
  • CHMP4A:charged multivesicular body protein 4A [Gene - OMIM - HGNC]
  • CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]
  • C14orf119:chromosome 14 open reading frame 119 [Gene - HGNC]
  • C14orf93:chromosome 14 open reading frame 93 [Gene - HGNC]
  • CMA1:chymase 1 [Gene - OMIM - HGNC]
  • CPNE6:copine 6 [Gene - OMIM - HGNC]
  • CCNB1IP1:cyclin B1 interacting protein 1 [Gene - OMIM - HGNC]
  • DAD1:defender against cell death 1 [Gene - OMIM - HGNC]
  • DHRS1:dehydrogenase/reductase 1 [Gene - OMIM - HGNC]
  • DHRS2:dehydrogenase/reductase 2 [Gene - OMIM - HGNC]
  • DHRS4L1:dehydrogenase/reductase 4 like 1 [Gene - OMIM - HGNC]
  • DHRS4L2:dehydrogenase/reductase 4 like 2 [Gene - OMIM - HGNC]
  • DHRS4:dehydrogenase/reductase 4 [Gene - OMIM - HGNC]
  • EFS:embryonal Fyn-associated substrate [Gene - OMIM - HGNC]
  • EDDM3A:epididymal protein 3A [Gene - OMIM - HGNC]
  • EDDM3B:epididymal protein 3B [Gene - OMIM - HGNC]
  • FITM1:fat storage inducing transmembrane protein 1 [Gene - OMIM - HGNC]
  • GZMB:granzyme B [Gene - OMIM - HGNC]
  • GZMH:granzyme H [Gene - OMIM - HGNC]
  • GMPR2:guanosine monophosphate reductase 2 [Gene - OMIM - HGNC]
  • HNRNPC:heterogeneous nuclear ribonucleoprotein C [Gene - OMIM - HGNC]
  • HOMEZ:homeobox and leucine zipper encoding [Gene - OMIM - HGNC]
  • IPO4:importin 4 [Gene - HGNC]
  • IRF9:interferon regulatory factor 9 [Gene - OMIM - HGNC]
  • IL25:interleukin 25 [Gene - OMIM - HGNC]
  • JPH4:junctophilin 4 [Gene - HGNC]
  • KLHL33:kelch like family member 33 [Gene - HGNC]
  • LTB4R2:leukotriene B4 receptor 2 [Gene - OMIM - HGNC]
  • LTB4R:leukotriene B4 receptor [Gene - OMIM - HGNC]
  • LINC00596:long intergenic non-protein coding RNA 596 [Gene - HGNC]
  • MDP1:magnesium dependent phosphatase 1 [Gene - HGNC]
  • MMP14:matrix metallopeptidase 14 [Gene - OMIM - HGNC]
  • METTL17:methyltransferase like 17 [Gene - OMIM - HGNC]
  • METTL3:methyltransferase like 3 [Gene - OMIM - HGNC]
  • MIR208A:microRNA 208a [Gene - OMIM - HGNC]
  • MIR208B:microRNA 208b [Gene - OMIM - HGNC]
  • MRPL52:mitochondrial ribosomal protein L52 [Gene - OMIM - HGNC]
  • MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
  • MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
  • NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
  • NGDN:neuroguidin [Gene - OMIM - HGNC]
  • NFATC4:nuclear factor of activated T cells 4 [Gene - OMIM - HGNC]
  • OR10G2:olfactory receptor family 10 subfamily G member 2 [Gene - HGNC]
  • OR10G3:olfactory receptor family 10 subfamily G member 3 [Gene - HGNC]
  • OR11G2:olfactory receptor family 11 subfamily G member 2 [Gene - HGNC]
  • OR11H2:olfactory receptor family 11 subfamily H member 2 [Gene - HGNC]
  • OR11H4:olfactory receptor family 11 subfamily H member 4 [Gene - HGNC]
  • OR11H6:olfactory receptor family 11 subfamily H member 6 [Gene - HGNC]
  • OR4E2:olfactory receptor family 4 subfamily E member 2 (gene/pseudogene) [Gene - HGNC]
  • OR4K13:olfactory receptor family 4 subfamily K member 13 [Gene - HGNC]
  • OR4K14:olfactory receptor family 4 subfamily K member 14 [Gene - HGNC]
  • OR4K15:olfactory receptor family 4 subfamily K member 15 [Gene - HGNC]
  • OR4K17:olfactory receptor family 4 subfamily K member 17 [Gene - HGNC]
  • OR4K1:olfactory receptor family 4 subfamily K member 1 [Gene - HGNC]
  • OR4K2:olfactory receptor family 4 subfamily K member 2 [Gene - HGNC]
  • OR4K5:olfactory receptor family 4 subfamily K member 5 [Gene - HGNC]
  • OR4L1:olfactory receptor family 4 subfamily L member 1 (gene/pseudogene) [Gene - HGNC]
  • OR4M1:olfactory receptor family 4 subfamily M member 1 [Gene - HGNC]
  • OR4N2:olfactory receptor family 4 subfamily N member 2 [Gene - HGNC]
  • OR4N5:olfactory receptor family 4 subfamily N member 5 [Gene - HGNC]
  • OR4Q3:olfactory receptor family 4 subfamily Q member 3 [Gene - HGNC]
  • OR5AU1:olfactory receptor family 5 subfamily AU member 1 [Gene - HGNC]
  • OR6S1:olfactory receptor family 6 subfamily S member 1 [Gene - HGNC]
  • PIP4P1:phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 [Gene - OMIM - HGNC]
  • PCK2:phosphoenolpyruvate carboxykinase 2, mitochondrial [Gene - OMIM - HGNC]
  • PABPN1:poly(A) binding protein nuclear 1 [Gene - OMIM - HGNC]
  • PARP2:poly(ADP-ribose) polymerase 2 [Gene - OMIM - HGNC]
  • PSMB5:proteasome 20S subunit beta 5 [Gene - OMIM - HGNC]
  • PSME1:proteasome activator subunit 1 [Gene - OMIM - HGNC]
  • PSME2:proteasome activator subunit 2 [Gene - OMIM - HGNC]
  • PSMB11:proteasome subunit beta 11 [Gene - OMIM - HGNC]
  • PRMT5:protein arginine methyltransferase 5 [Gene - OMIM - HGNC]
  • PPP1R3E:protein phosphatase 1 regulatory subunit 3E [Gene - HGNC]
  • PNP:purine nucleoside phosphorylase [Gene - OMIM - HGNC]
  • RIPK3:receptor interacting serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • RNASE1:ribonuclease A family member 1, pancreatic [Gene - OMIM - HGNC]
  • RNASE10:ribonuclease A family member 10 (inactive) [Gene - HGNC]
  • RNASE11:ribonuclease A family member 11 (inactive) [Gene - HGNC]
  • RNASE12:ribonuclease A family member 12 (inactive) [Gene - HGNC]
  • RNASE13:ribonuclease A family member 13 (inactive) [Gene - HGNC]
  • RNASE2:ribonuclease A family member 2 [Gene - OMIM - HGNC]
  • RNASE3:ribonuclease A family member 3 [Gene - OMIM - HGNC]
  • RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]
  • RNASE7:ribonuclease A family member 7 [Gene - OMIM - HGNC]
  • RNASE8:ribonuclease A family member 8 [Gene - OMIM - HGNC]
  • RNASE9:ribonuclease A family member 9 (inactive) [Gene - OMIM - HGNC]
  • RNASE6:ribonuclease A family member k6 [Gene - OMIM - HGNC]
  • RPPH1:ribonuclease P RNA component H1 [Gene - OMIM - HGNC]
  • RNF212B:ring finger protein 212B [Gene - HGNC]
  • RNF31:ring finger protein 31 [Gene - OMIM - HGNC]
  • SDR39U1:short chain dehydrogenase/reductase family 39U member 1 [Gene - OMIM - HGNC]
  • SLC22A17:solute carrier family 22 member 17 [Gene - OMIM - HGNC]
  • SLC39A2:solute carrier family 39 member 2 [Gene - OMIM - HGNC]
  • SLC7A7:solute carrier family 7 member 7 [Gene - OMIM - HGNC]
  • SLC7A8:solute carrier family 7 member 8 [Gene - OMIM - HGNC]
  • SALL2:spalt like transcription factor 2 [Gene - OMIM - HGNC]
  • STXBP6:syntaxin binding protein 6 [Gene - OMIM - HGNC]
  • TRL-AAG2-3:tRNA-Leu (anticodon AAG) 2-3 [Gene - OMIM - HGNC]
  • TRP-AGG2-5:tRNA-Pro (anticodon AGG) 2-5 [Gene - OMIM - HGNC]
  • TRP-AGG2-6:tRNA-Pro (anticodon AGG) 2-6 [Gene - OMIM - HGNC]
  • TRT-TGT3-1:tRNA-Thr (anticodon TGT) 3-1 [Gene - OMIM - HGNC]
  • TEP1:telomerase associated protein 1 [Gene - OMIM - HGNC]
  • TSSK4:testis specific serine kinase 4 [Gene - OMIM - HGNC]
  • TTC5:tetratricopeptide repeat domain 5 [Gene - HGNC]
  • THTPA:thiamine triphosphatase [Gene - OMIM - HGNC]
  • TGM1:transglutaminase 1 [Gene - OMIM - HGNC]
  • TM9SF1:transmembrane 9 superfamily member 1 [Gene - HGNC]
  • TMEM253:transmembrane protein 253 [Gene - HGNC]
  • TPPP2:tubulin polymerization promoting protein family member 2 [Gene - OMIM - HGNC]
  • ZFHX2:zinc finger homeobox 2 [Gene - OMIM - HGNC]
  • ZNF219:zinc finger protein 219 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q11.2-12
Genomic location:
Chr14: 19794561 - 27768254 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3
HGVS:

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000298674GeneDxcriteria provided, single submitter
    Pathogenic
    (Jan 20, 2016)
    unknownclinical testing

    Citation Link

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From GeneDx, SCV000298674.3

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Sep 14, 2019

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