• delete

GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000053834.4

Allele description

GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1

Genes:
  • KDSR:3-ketodihydrosphingosine reductase [Gene - OMIM - HGNC]
  • ADNP2:ADNP homeobox 2 [Gene - OMIM - HGNC]
  • ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]
  • ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]
  • BCL2:BCL2, apoptosis regulator [Gene - OMIM - HGNC]
  • CD226:CD226 molecule [Gene - OMIM - HGNC]
  • CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
  • DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]
  • POLI:DNA polymerase iota [Gene - OMIM - HGNC]
  • FBXO15:F-box protein 15 [Gene - OMIM - HGNC]
  • GTSCR1:Gilles de la Tourette syndrome chromosome region, candidate 1 [Gene - HGNC]
  • KIAA1468:KIAA1468 [Gene - HGNC]
  • MALT1:MALT1 paracaspase [Gene - OMIM - HGNC]
  • PARD6G-AS1:PARD6G antisense RNA 1 [Gene - HGNC]
  • PHLPP1:PH domain and leucine rich repeat protein phosphatase 1 [Gene - OMIM - HGNC]
  • PQLC1:PQ loop repeat containing 1 [Gene - HGNC]
  • RAB27B:RAB27B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBFADN:RBFA downstream neighbor (non-protein coding) [Gene - HGNC]
  • RNU6-39P:RNA, U6 small nuclear 39, pseudogene [Gene]
  • SEC11C:SEC11 homolog C, signal peptidase complex subunit [Gene - HGNC]
  • ST8SIA3:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 [Gene - OMIM - HGNC]
  • STARD6:StAR related lipid transfer domain containing 6 [Gene - OMIM - HGNC]
  • TCF4-AS1:TCF4 antisense RNA 1 [Gene - HGNC]
  • TNFRSF11A:TNF receptor superfamily member 11a [Gene - OMIM - HGNC]
  • WDR7:WD repeat domain 7 [Gene - OMIM - HGNC]
  • WDR7-OT1:WDR7 overlapping transcript 1 [Gene - HGNC]
  • ALPK2:alpha kinase 2 [Gene - HGNC]
  • NARS:asparaginyl-tRNA synthetase [Gene - OMIM - HGNC]
  • BOD1L2:biorientation of chromosomes in cell division 1 like 2 [Gene - HGNC]
  • CDH19:cadherin 19 [Gene - OMIM - HGNC]
  • CDH20:cadherin 20 [Gene - OMIM - HGNC]
  • CDH7:cadherin 7 [Gene - OMIM - HGNC]
  • CNDP1:carnosine dipeptidase 1 [Gene - OMIM - HGNC]
  • CNDP2:carnosine dipeptidase 2 [Gene - OMIM - HGNC]
  • CBLN2:cerebellin 2 precursor [Gene - OMIM - HGNC]
  • C18orf54:chromosome 18 open reading frame 54 [Gene - OMIM - HGNC]
  • C18orf63:chromosome 18 open reading frame 63 [Gene - HGNC]
  • C18orf65:chromosome 18 open reading frame 65 [Gene - HGNC]
  • CCDC102B:coiled-coil domain containing 102B [Gene - HGNC]
  • CCDC68:coiled-coil domain containing 68 [Gene - OMIM - HGNC]
  • CCBE1:collagen and calcium binding EGF domains 1 [Gene - OMIM - HGNC]
  • CPLX4:complexin 4 [Gene - OMIM - HGNC]
  • CYB5A:cytochrome b5 type A [Gene - OMIM - HGNC]
  • DSEL:dermatan sulfate epimerase-like [Gene - OMIM - HGNC]
  • DOK6:docking protein 6 [Gene - OMIM - HGNC]
  • DYNAP:dynactin associated protein [Gene - HGNC]
  • FAM69C:family with sequence similarity 69 member C [Gene - OMIM - HGNC]
  • FECH:ferrochelatase [Gene - OMIM - HGNC]
  • GALR1:galanin receptor 1 [Gene - OMIM - HGNC]
  • GRP:gastrin releasing peptide [Gene - OMIM - HGNC]
  • HSBP1L1:heat shock factor binding protein 1 like 1 [Gene - HGNC]
  • HMSD:histocompatibility minor serpin domain containing [Gene - OMIM - HGNC]
  • LMAN1:lectin, mannose binding 1 [Gene - OMIM - HGNC]
  • LIVAR:liver cell viability associated lncRNA [Gene - HGNC]
  • LINC01029:long intergenic non-protein coding RNA 1029 [Gene - HGNC]
  • LINC01415:long intergenic non-protein coding RNA 1415 [Gene - HGNC]
  • LINC01416:long intergenic non-protein coding RNA 1416 [Gene - HGNC]
  • LINC01538:long intergenic non-protein coding RNA 1538 [Gene - HGNC]
  • LINC01539:long intergenic non-protein coding RNA 1539 [Gene - HGNC]
  • LINC01541:long intergenic non-protein coding RNA 1541 [Gene - HGNC]
  • LINC01544:long intergenic non-protein coding RNA 1544 [Gene - HGNC]
  • LINC01879:long intergenic non-protein coding RNA 1879 [Gene - HGNC]
  • LINC01893:long intergenic non-protein coding RNA 1893 [Gene - HGNC]
  • LINC01896:long intergenic non-protein coding RNA 1896 [Gene - HGNC]
  • LINC01898:long intergenic non-protein coding RNA 1898 [Gene - HGNC]
  • LINC01899:long intergenic non-protein coding RNA 1899 [Gene - HGNC]
  • LINC01903:long intergenic non-protein coding RNA 1903 [Gene - HGNC]
  • LINC01905:long intergenic non-protein coding RNA 1905 [Gene - HGNC]
  • LINC01909:long intergenic non-protein coding RNA 1909 [Gene - HGNC]
  • LINC01910:long intergenic non-protein coding RNA 1910 [Gene - HGNC]
  • LINC01912:long intergenic non-protein coding RNA 1912 [Gene - HGNC]
  • LINC01917:long intergenic non-protein coding RNA 1917 [Gene - HGNC]
  • LINC01919:long intergenic non-protein coding RNA 1919 [Gene - HGNC]
  • LINC01922:long intergenic non-protein coding RNA 1922 [Gene - HGNC]
  • LINC01924:long intergenic non-protein coding RNA 1924 [Gene - HGNC]
  • LINC01926:long intergenic non-protein coding RNA 1926 [Gene - HGNC]
  • LINC01927:long intergenic non-protein coding RNA 1927 [Gene - HGNC]
  • LINC01929:long intergenic non-protein coding RNA 1929 [Gene - HGNC]
  • LINC02565:long intergenic non-protein coding RNA 2565 [Gene - HGNC]
  • LINC00305:long intergenic non-protein coding RNA 305 [Gene - OMIM - HGNC]
  • LINC00683:long intergenic non-protein coding RNA 683 [Gene - HGNC]
  • LINC00908:long intergenic non-protein coding RNA 908 [Gene - HGNC]
  • LINC00909:long intergenic non-protein coding RNA 909 [Gene - HGNC]
  • LINC-ROR:long intergenic non-protein coding RNA, regulator of reprogramming [Gene - OMIM - HGNC]
  • MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
  • MBD2:methyl-CpG binding domain protein 2 [Gene - OMIM - HGNC]
  • MIR122:microRNA 122 [Gene - OMIM - HGNC]
  • MIR3591:microRNA 3591 [Gene - HGNC]
  • MIR4528:microRNA 4528 [Gene - HGNC]
  • MIR4529:microRNA 4529 [Gene - HGNC]
  • MIR5011:microRNA 5011 [Gene - HGNC]
  • MIR548AV:microRNA 548av [Gene - HGNC]
  • MBP:myelin basic protein [Gene - OMIM - HGNC]
  • LOC100505797:myosin heavy chain IB-like [Gene]
  • NEDD4L:neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • NETO1:neuropilin and tolloid like 1 [Gene - OMIM - HGNC]
  • NFATC1:nuclear factor of activated T-cells 1 [Gene - OMIM - HGNC]
  • ONECUT2:one cut homeobox 2 [Gene - OMIM - HGNC]
  • PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM - HGNC]
  • PMAIP1:phorbol-12-myristate-13-acetate-induced protein 1 [Gene - OMIM - HGNC]
  • PIGN:phosphatidylinositol glycan anchor biosynthesis class N [Gene - OMIM - HGNC]
  • KCNG2:potassium voltage-gated channel modifier subfamily G member 2 [Gene - OMIM - HGNC]
  • RAX:retina and anterior neural fold homeobox [Gene - OMIM - HGNC]
  • RBFA:ribosome binding factor A (putative) [Gene - HGNC]
  • RNF152:ring finger protein 152 [Gene - OMIM - HGNC]
  • RTTN:rotatin [Gene - OMIM - HGNC]
  • SERPINB10:serpin family B member 10 [Gene - OMIM - HGNC]
  • SERPINB11:serpin family B member 11 (gene/pseudogene) [Gene - OMIM - HGNC]
  • SERPINB12:serpin family B member 12 [Gene - OMIM - HGNC]
  • SERPINB13:serpin family B member 13 [Gene - OMIM - HGNC]
  • SERPINB2:serpin family B member 2 [Gene - OMIM - HGNC]
  • SERPINB3:serpin family B member 3 [Gene - OMIM - HGNC]
  • SERPINB4:serpin family B member 4 [Gene - OMIM - HGNC]
  • SERPINB5:serpin family B member 5 [Gene - OMIM - HGNC]
  • SERPINB7:serpin family B member 7 [Gene - OMIM - HGNC]
  • SERPINB8:serpin family B member 8 [Gene - OMIM - HGNC]
  • SMIM21:small integral membrane protein 21 [Gene - HGNC]
  • SNORA108:small nucleolar RNA, H/ACA box 108 [Gene - HGNC]
  • SNORA37:small nucleolar RNA, H/ACA box 37 [Gene - HGNC]
  • SALL3:spalt like transcription factor 3 [Gene - OMIM - HGNC]
  • SOCS6:suppressor of cytokine signaling 6 [Gene - OMIM - HGNC]
  • TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM - HGNC]
  • TXNL1:thioredoxin like 1 [Gene - OMIM - HGNC]
  • TXNL4A:thioredoxin like 4A [Gene - OMIM - HGNC]
  • TMX3:thioredoxin related transmembrane protein 3 [Gene - OMIM - HGNC]
  • TCF4:transcription factor 4 [Gene - OMIM - HGNC]
  • TIMM21:translocase of inner mitochondrial membrane 21 [Gene - OMIM - HGNC]
  • LOC100131655:uncharacterized LOC100131655 [Gene]
  • LOC100505549:uncharacterized LOC100505549 [Gene]
  • LOC100505817:uncharacterized LOC100505817 [Gene]
  • LOC101927322:uncharacterized LOC101927322 [Gene]
  • LOC101927989:uncharacterized LOC101927989 [Gene]
  • LOC105372179:uncharacterized LOC105372179 [Gene]
  • LOC284240:uncharacterized LOC284240 [Gene]
  • LOC284241:uncharacterized LOC284241 [Gene]
  • LOC339298:uncharacterized LOC339298 [Gene]
  • LOC400655:uncharacterized LOC400655 [Gene]
  • LOC642484:uncharacterized LOC642484 [Gene]
  • LOC643542:uncharacterized LOC643542 [Gene]
  • VPS4B:vacuolar protein sorting 4 homolog B [Gene - OMIM - HGNC]
  • ZADH2:zinc binding alcohol dehydrogenase domain containing 2 [Gene - HGNC]
  • ZCCHC2:zinc finger CCHC-type containing 2 [Gene - HGNC]
  • ZNF236:zinc finger protein 236 [Gene - OMIM - HGNC]
  • ZNF407:zinc finger protein 407 [Gene - OMIM - HGNC]
  • ZNF516:zinc finger protein 516 [Gene - OMIM - HGNC]
  • ZNF532:zinc finger protein 532 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
18q21.2-23
Genomic location:
Preferred name:
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1
HGVS:
  • NC_000018.10:g.(?_51605752)_(80252149_?)del
  • NC_000018.8:g.(?_47386120)_(76111023_?)del
  • NC_000018.9:g.(?_49132122)_(78010032_?)del
Links:
dbVar: nssv577642; dbVar: nsv532501
Observations:
1

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
SCV000081197ISCA site 1

See additional submitters

criteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000081197

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 1, SCV000081197.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Aug 27, 2017

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