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GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) AND 11q partial monosomy syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 26, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003236728.1

Allele description [Variation Report for GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)]

GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)

Genes:
  • ADAMTS15:ADAM metallopeptidase with thrombospondin type 1 motif 15 [Gene - OMIM - HGNC]
  • ADAMTS8:ADAM metallopeptidase with thrombospondin type 1 motif 8 [Gene - OMIM - HGNC]
  • BARX2:BARX homeobox 2 [Gene - OMIM - HGNC]
  • BLID:BH3-like motif containing, cell death inducer [Gene - OMIM - HGNC]
  • CLMP:CXADR like membrane protein [Gene - OMIM - HGNC]
  • DDX25:DEAD-box helicase 25 [Gene - OMIM - HGNC]
  • EI24:EI24 autophagy associated transmembrane protein [Gene - OMIM - HGNC]
  • ETS1:ETS proto-oncogene 1, transcription factor [Gene - OMIM - HGNC]
  • FOXRED1:FAD dependent oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
  • FLI1:Fli-1 proto-oncogene, ETS transcription factor [Gene - OMIM - HGNC]
  • GRAMD1B:GRAM domain containing 1B [Gene - OMIM - HGNC]
  • HYLS1:HYLS1 centriolar and ciliogenesis associated [Gene - OMIM - HGNC]
  • KCNJ5-AS1:KCNJ5 antisense RNA 1 [Gene - HGNC]
  • MSANTD2:Myb/SANT DNA binding domain containing 2 [Gene - HGNC]
  • PKNOX2:PBX/knotted 1 homeobox 2 [Gene - OMIM - HGNC]
  • PRDM10:PR/SET domain 10 [Gene - OMIM - HGNC]
  • RPUSD4:RNA pseudouridine synthase D4 [Gene - OMIM - HGNC]
  • ARHGAP32:Rho GTPase activating protein 32 [Gene - OMIM - HGNC]
  • SRPRA:SRP receptor subunit alpha [Gene - OMIM - HGNC]
  • ST14:ST14 transmembrane serine protease matriptase [Gene - OMIM - HGNC]
  • ST3GAL4:ST3 beta-galactoside alpha-2,3-sialyltransferase 4 [Gene - OMIM - HGNC]
  • STT3A:STT3 oligosaccharyltransferase complex catalytic subunit A [Gene - OMIM - HGNC]
  • TIRAP:TIR domain containing adaptor protein [Gene - OMIM - HGNC]
  • VSIG2:V-set and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
  • VPS26B:VPS26 retromer complex component B [Gene - OMIM - HGNC]
  • ACRV1:acrosomal vesicle protein 1 [Gene - OMIM - HGNC]
  • ACAD8:acyl-CoA dehydrogenase family member 8 [Gene - OMIM - HGNC]
  • APLP2:amyloid beta precursor like protein 2 [Gene - OMIM - HGNC]
  • B3GAT1:beta-1,3-glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • BSX:brain specific homeobox [Gene - OMIM - HGNC]
  • CDON:cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CHEK1:checkpoint kinase 1 [Gene - OMIM - HGNC]
  • CCDC15:coiled-coil domain containing 15 [Gene - HGNC]
  • CRTAM:cytotoxic and regulatory T cell molecule [Gene - OMIM - HGNC]
  • DCPS:decapping enzyme, scavenger [Gene - OMIM - HGNC]
  • ESAM:endothelial cell adhesion molecule [Gene - OMIM - HGNC]
  • FAM118B:family with sequence similarity 118 member B [Gene - OMIM - HGNC]
  • FEZ1:fasciculation and elongation protein zeta 1 [Gene - OMIM - HGNC]
  • GLB1L2:galactosidase beta 1 like 2 [Gene - HGNC]
  • GLB1L3:galactosidase beta 1 like 3 [Gene - HGNC]
  • GRIK4:glutamate ionotropic receptor kainate type subunit 4 [Gene - OMIM - HGNC]
  • HSPA8:heat shock protein family A (Hsp70) member 8 [Gene - OMIM - HGNC]
  • HEPACAM:hepatic and glial cell adhesion molecule [Gene - OMIM - HGNC]
  • HEPN1:hepatocellular carcinoma, down-regulated 1 [Gene - OMIM - HGNC]
  • IGSF9B:immunoglobulin superfamily member 9B [Gene - OMIM - HGNC]
  • JAM3:junctional adhesion molecule 3 [Gene - OMIM - HGNC]
  • JHY:junctional cadherin complex regulator [Gene - OMIM - HGNC]
  • KIRREL3:kirre like nephrin family adhesion molecule 3 [Gene - OMIM - HGNC]
  • LINC02743:long intergenic non-protein coding RNA 2743 [Gene - HGNC]
  • LINC02873:long intergenic non-protein coding RNA 2873 [Gene - HGNC]
  • MIR100:microRNA 100 [Gene - OMIM - HGNC]
  • MIR125B1:microRNA 125b-1 [Gene - OMIM - HGNC]
  • MIRLET7A2:microRNA let-7a-2 [Gene - OMIM - HGNC]
  • NRGN:neurogranin [Gene - OMIM - HGNC]
  • NTM:neurotrimin [Gene - OMIM - HGNC]
  • NCAPD3:non-SMC condensin II complex subunit D3 [Gene - OMIM - HGNC]
  • NFRKB:nuclear factor related to kappaB binding protein [Gene - OMIM - HGNC]
  • OR10G4:olfactory receptor family 10 subfamily G member 4 [Gene - HGNC]
  • OR10G7:olfactory receptor family 10 subfamily G member 7 [Gene - HGNC]
  • OR10G8:olfactory receptor family 10 subfamily G member 8 [Gene - HGNC]
  • OR10G9:olfactory receptor family 10 subfamily G member 9 [Gene - HGNC]
  • OR10S1:olfactory receptor family 10 subfamily S member 1 [Gene - HGNC]
  • OR4D5:olfactory receptor family 4 subfamily D member 5 [Gene - HGNC]
  • OR6M1:olfactory receptor family 6 subfamily M member 1 [Gene - HGNC]
  • OR6T1:olfactory receptor family 6 subfamily T member 1 [Gene - HGNC]
  • OR6X1:olfactory receptor family 6 subfamily X member 1 [Gene - HGNC]
  • OR8A1:olfactory receptor family 8 subfamily A member 1 [Gene - HGNC]
  • OR8B12:olfactory receptor family 8 subfamily B member 12 [Gene - HGNC]
  • OR8B2:olfactory receptor family 8 subfamily B member 2 [Gene - HGNC]
  • OR8B3:olfactory receptor family 8 subfamily B member 3 [Gene - HGNC]
  • OR8B4:olfactory receptor family 8 subfamily B member 4 [Gene - HGNC]
  • OR8B8:olfactory receptor family 8 subfamily B member 8 [Gene - HGNC]
  • OR8D1:olfactory receptor family 8 subfamily D member 1 [Gene - HGNC]
  • OR8D2:olfactory receptor family 8 subfamily D member 2 [Gene - HGNC]
  • OR8D4:olfactory receptor family 8 subfamily D member 4 [Gene - HGNC]
  • OR8G1:olfactory receptor family 8 subfamily G member 1 [Gene - HGNC]
  • OR8G5:olfactory receptor family 8 subfamily G member 5 [Gene - HGNC]
  • OPCML:opioid binding protein/cell adhesion molecule like [Gene - OMIM - HGNC]
  • PANX3:pannexin 3 [Gene - OMIM - HGNC]
  • KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]
  • KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]
  • PATE1:prostate and testis expressed 1 [Gene - OMIM - HGNC]
  • PATE2:prostate and testis expressed 2 [Gene - HGNC]
  • PATE3:prostate and testis expressed 3 [Gene - HGNC]
  • PATE4:prostate and testis expressed 4 [Gene - HGNC]
  • PUS3:pseudouridine synthase 3 [Gene - OMIM - HGNC]
  • ROBO3:roundabout guidance receptor 3 [Gene - OMIM - HGNC]
  • ROBO4:roundabout guidance receptor 4 [Gene - OMIM - HGNC]
  • SIAE:sialic acid acetylesterase [Gene - OMIM - HGNC]
  • SCN3B:sodium voltage-gated channel beta subunit 3 [Gene - OMIM - HGNC]
  • SLC37A2:solute carrier family 37 member 2 [Gene - OMIM - HGNC]
  • SORL1:sortilin related receptor 1 [Gene - OMIM - HGNC]
  • SNX19:sorting nexin 19 [Gene - HGNC]
  • SPA17:sperm autoantigenic protein 17 [Gene - OMIM - HGNC]
  • SPATA19:spermatogenesis associated 19 [Gene - OMIM - HGNC]
  • SC5D:sterol-C5-desaturase [Gene - OMIM - HGNC]
  • TECTA:tectorin alpha [Gene - OMIM - HGNC]
  • THYN1:thymocyte nuclear protein 1 [Gene - OMIM - HGNC]
  • TBRG1:transforming growth factor beta regulator 1 [Gene - OMIM - HGNC]
  • TMEM218:transmembrane protein 218 [Gene - OMIM - HGNC]
  • TMEM225:transmembrane protein 225 [Gene - HGNC]
  • TMEM45B:transmembrane protein 45B [Gene - HGNC]
  • TBCEL:tubulin folding cofactor E like [Gene - OMIM - HGNC]
  • TP53AIP1:tumor protein p53 regulated apoptosis inducing protein 1 [Gene - OMIM - HGNC]
  • UBASH3B:ubiquitin associated and SH3 domain containing B [Gene - OMIM - HGNC]
  • LOC101929473:uncharacterized LOC101929473 [Gene]
  • VWA5A:von Willebrand factor A domain containing 5A [Gene - OMIM - HGNC]
  • ZBTB44:zinc finger and BTB domain containing 44 [Gene - HGNC]
  • ZNF202:zinc finger protein 202 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11q23.3-25
Genomic location:
Chr11: 120531028 - 134257553 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)

Condition(s)

Name:
11q partial monosomy syndrome (JBS)
Synonyms:
Jacobsen Distal 11q Deletion Syndrome; Chromosome 11q deletion syndrome
Identifiers:
MONDO: MONDO:0007838; MedGen: C0795841; Orphanet: 2308; OMIM: 147791

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003935227Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Pathogenic
(May 26, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV003935227.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 1, 2023