GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 AND not provided

Clinical significance:Pathogenic (Last evaluated: May 27, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000751445.1

Allele description [Variation Report for GRCh37/hg19 16p13.3(chr16:61451-1593645)x1]

GRCh37/hg19 16p13.3(chr16:61451-1593645)x1

Genes:
  • DECR2:2,4-dienoyl-CoA reductase 2 [Gene - OMIM - HGNC]
  • BAIAP3:BAI1 associated protein 3 [Gene - OMIM - HGNC]
  • C1QTNF8:C1q and TNF related 8 [Gene - OMIM - HGNC]
  • FBXL16:F-box and leucine rich repeat protein 16 [Gene - OMIM - HGNC]
  • GNG13:G protein subunit gamma 13 [Gene - OMIM - HGNC]
  • LUC7L:LUC7 like [Gene - OMIM - HGNC]
  • MCRIP2:MAPK regulated corepressor interacting protein 2 [Gene - HGNC]
  • GNPTG:N-acetylglucosamine-1-phosphate transferase subunit gamma [Gene - OMIM - HGNC]
  • MPG:N-methylpurine DNA glycosylase [Gene - OMIM - HGNC]
  • NHLRC4:NHL repeat containing 4 [Gene - HGNC]
  • NME4:NME/NM23 nucleoside diphosphate kinase 4 [Gene - OMIM - HGNC]
  • NPRL3:NPR3 like, GATOR1 complex subunit [Gene - OMIM - HGNC]
  • RAB11FIP3:RAB11 family interacting protein 3 [Gene - OMIM - HGNC]
  • RAB40C:RAB40C, member RAS oncogene family [Gene - HGNC]
  • POLR3K:RNA polymerase III subunit K [Gene - OMIM - HGNC]
  • RPUSD1:RNA pseudouridine synthase domain containing 1 [Gene - HGNC]
  • ARHGDIG:Rho GDP dissociation inhibitor gamma [Gene - OMIM - HGNC]
  • SOX8:SRY-box transcription factor 8 [Gene - OMIM - HGNC]
  • STUB1:STIP1 homology and U-box containing protein 1 [Gene - OMIM - HGNC]
  • TSR3:TSR3 ribosome maturation factor [Gene - OMIM - HGNC]
  • WFIKKN1:WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 [Gene - OMIM - HGNC]
  • WDR24:WD repeat domain 24 [Gene - HGNC]
  • WDR90:WD repeat domain 90 [Gene - OMIM - HGNC]
  • ANTKMT:adenine nucleotide translocase lysine methyltransferase [Gene - OMIM - HGNC]
  • AXIN1:axin 1 [Gene - OMIM - HGNC]
  • CACNA1H:calcium voltage-gated channel subunit alpha1 H [Gene - OMIM - HGNC]
  • CAPN15:calpain 15 [Gene - OMIM - HGNC]
  • CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]
  • C16orf91:chromosome 16 open reading frame 91 [Gene - HGNC]
  • CHTF18:chromosome transmission fidelity factor 18 [Gene - OMIM - HGNC]
  • CCDC154:coiled-coil domain containing 154 [Gene - HGNC]
  • CCDC78:coiled-coil domain containing 78 [Gene - OMIM - HGNC]
  • CIAO3:cytosolic iron-sulfur assembly component 3 [Gene - OMIM - HGNC]
  • FAM234A:family with sequence similarity 234 member A [Gene - HGNC]
  • HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
  • HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
  • HBM:hemoglobin subunit mu [Gene - OMIM - HGNC]
  • HBQ1:hemoglobin subunit theta 1 [Gene - OMIM - HGNC]
  • HBZ:hemoglobin subunit zeta [Gene - OMIM - HGNC]
  • HAGHL:hydroxyacylglutathione hydrolase like [Gene - HGNC]
  • IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
  • JMJD8:jumonji domain containing 8 [Gene - HGNC]
  • LMF1:lipase maturation factor 1 [Gene - OMIM - HGNC]
  • MSLN:mesothelin [Gene - OMIM - HGNC]
  • METRN:meteorin, glial cell differentiation regulator [Gene - OMIM - HGNC]
  • METTL26:methyltransferase like 26 [Gene - HGNC]
  • MRPL28:mitochondrial ribosomal protein L28 [Gene - OMIM - HGNC]
  • PTX4:pentraxin 4 [Gene - OMIM - HGNC]
  • PIGQ:phosphatidylinositol glycan anchor biosynthesis class Q [Gene - OMIM - HGNC]
  • PGAP6:post-glycosylphosphatidylinositol attachment to proteins 6 [Gene - HGNC]
  • PRR25:proline rich 25 [Gene - HGNC]
  • PRR35:proline rich 35 [Gene - HGNC]
  • PDIA2:protein disulfide isomerase family A member 2 [Gene - OMIM - HGNC]
  • RHOT2:ras homolog family member T2 [Gene - OMIM - HGNC]
  • RGS11:regulator of G protein signaling 11 [Gene - OMIM - HGNC]
  • RHBDF1:rhomboid 5 homolog 1 [Gene - OMIM - HGNC]
  • RHBDL1:rhomboid like 1 [Gene - OMIM - HGNC]
  • SNRNP25:small nuclear ribonucleoprotein U11/U12 subunit 25 [Gene - HGNC]
  • SSTR5:somatostatin receptor 5 [Gene - OMIM - HGNC]
  • TELO2:telomere maintenance 2 [Gene - OMIM - HGNC]
  • TMEM204:transmembrane protein 204 [Gene - OMIM - HGNC]
  • TPSAB1:tryptase alpha/beta 1 [Gene - OMIM - HGNC]
  • TPSB2:tryptase beta 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • TPSD1:tryptase delta 1 [Gene - OMIM - HGNC]
  • TPSG1:tryptase gamma 1 [Gene - OMIM - HGNC]
  • UBE2I:ubiquitin conjugating enzyme E2 I [Gene - OMIM - HGNC]
  • UNKL:unk like zinc finger [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16p13.3
Genomic location:
Chr16: 61451 - 1593645 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1
HGVS:

    Condition(s)

    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000879781Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Centerno assertion criteria providedPathogenic
    (May 27, 2011)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center, SCV000879781.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing
    (GTR000295241.2)
    not provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedbloodnot provided
    (GTR000295241.2)
    not providednot providednot providednot provided

    Last Updated: Dec 17, 2019

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