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GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1 AND Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000435400.1

Allele description [Variation Report for GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1]

GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1

Genes:
  • ARL14EP:ADP ribosylation factor like GTPase 14 effector protein [Gene - OMIM - HGNC]
  • BDNF-AS:BDNF antisense RNA [Gene - OMIM - HGNC]
  • DEPDC7:DEP domain containing 7 [Gene - OMIM - HGNC]
  • DNAJC24:DnaJ heat shock protein family (Hsp40) member C24 [Gene - OMIM - HGNC]
  • FANCF:FA complementation group F [Gene - OMIM - HGNC]
  • WT1-AS:WT1 antisense RNA [Gene - OMIM - HGNC]
  • WT1:WT1 transcription factor [Gene - OMIM - HGNC]
  • ANO3:anoctamin 3 [Gene - OMIM - HGNC]
  • ANO5:anoctamin 5 [Gene - OMIM - HGNC]
  • BDNF:brain derived neurotrophic factor [Gene - OMIM - HGNC]
  • CSTF3:cleavage stimulation factor subunit 3 [Gene - OMIM - HGNC]
  • CCDC179:coiled-coil domain containing 179 [Gene - HGNC]
  • CCDC34:coiled-coil domain containing 34 [Gene - OMIM - HGNC]
  • CCDC73:coiled-coil domain containing 73 [Gene - OMIM - HGNC]
  • DCDC1:doublecortin domain containing 1 [Gene - OMIM - HGNC]
  • ELP4:elongator acetyltransferase complex subunit 4 [Gene - OMIM - HGNC]
  • EIF3M:eukaryotic translation initiation factor 3 subunit M [Gene - OMIM - HGNC]
  • FIBIN:fin bud initiation factor homolog [Gene - OMIM - HGNC]
  • FSHB:follicle stimulating hormone subunit beta [Gene - OMIM - HGNC]
  • BBOX1:gamma-butyrobetaine hydroxylase 1 [Gene - OMIM - HGNC]
  • QSER1:glutamine and serine rich 1 [Gene - OMIM - HGNC]
  • GAS2:growth arrest specific 2 [Gene - OMIM - HGNC]
  • IMMP1L:inner mitochondrial membrane peptidase subunit 1 [Gene - OMIM - HGNC]
  • KIF18A:kinesin family member 18A [Gene - OMIM - HGNC]
  • LGR4:leucine rich repeat containing G protein-coupled receptor 4 [Gene - OMIM - HGNC]
  • LUZP2:leucine zipper protein 2 [Gene - OMIM - HGNC]
  • LIN7C:lin-7 homolog C, crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • LINC00294:long intergenic non-protein coding RNA 294 [Gene - OMIM - HGNC]
  • MPPED2:metallophosphoesterase domain containing 2 [Gene - OMIM - HGNC]
  • METTL15:methyltransferase 15, mitochondrial 12S rRNA N4-cytidine [Gene - OMIM - HGNC]
  • MIR610:microRNA 610 [Gene - OMIM - HGNC]
  • MUC15:mucin 15, cell surface associated [Gene - OMIM - HGNC]
  • NELL1:neural EGFL like 1 [Gene - OMIM - HGNC]
  • PAX6:paired box 6 [Gene - OMIM - HGNC]
  • KCNA4:potassium voltage-gated channel subfamily A member 4 [Gene - OMIM - HGNC]
  • PRRG4:proline rich and Gla domain 4 [Gene - OMIM - HGNC]
  • RCN1:reticulocalbin 1 [Gene - OMIM - HGNC]
  • SVIP:small VCP interacting protein [Gene - HGNC]
  • SLC17A6:solute carrier family 17 member 6 [Gene - OMIM - HGNC]
  • SLC5A12:solute carrier family 5 member 12 [Gene - OMIM - HGNC]
  • TCP11L1:t-complex 11 like 1 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11p15.1-13
Genomic location:
Chr11: 21586131 - 33168232 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1
HGVS:
NC_000011.9:g.(?_21586131)_(33168232_?)del

Condition(s)

Name:
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome (WAGRO)
Synonyms:
CHROMOSOME 11p13-p12 DELETION SYNDROME; WAGR SYNDROME WITH OBESITY; WAGRO SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012913; MedGen: C2675904; Orphanet: 893; OMIM: 612469

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000503073Department of Genetics, Fundacion Jimenez Diaz University Hospital
no assertion criteria provided
Pathogenicde novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European Caucasoidde novoyes11not provided3noresearch

Citations

PubMed

Aniridia.

Hingorani M, Hanson I, van Heyningen V.

Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13. Review.

PubMed [citation]
PMID:
22692063
PMCID:
PMC3449076

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M.

PLoS One. 2017;12(2):e0172363. doi: 10.1371/journal.pone.0172363.

PubMed [citation]
PMID:
28231309
PMCID:
PMC5322952

Details of each submission

From Department of Genetics, Fundacion Jimenez Diaz University Hospital, SCV000503073.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European Caucasoid1not providednoresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes3Whole blooddiscovery1not provided1not provided

Last Updated: Oct 14, 2023