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GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2014
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:
RCV000512162.3

Allele description [Variation Report for GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1]

GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1

Genes:
  • AKAIN1:A-kinase anchor inhibitor 1 [Gene - OMIM - HGNC]
  • AFG3L2:AFG3 like matrix AAA peptidase subunit 2 [Gene - OMIM - HGNC]
  • APCDD1:APC down-regulated 1 [Gene - OMIM - HGNC]
  • DLGAP1:DLG associated protein 1 [Gene - OMIM - HGNC]
  • DLGAP1-AS2:DLGAP1 antisense RNA 2 [Gene - HGNC]
  • GNAL:G protein subunit alpha L [Gene - OMIM - HGNC]
  • L3MBTL4:L3MBTL histone methyl-lysine binding protein 4 [Gene - OMIM - HGNC]
  • NDUFV2:NADH:ubiquinone oxidoreductase core subunit V2 [Gene - OMIM - HGNC]
  • NDC80:NDC80 kinetochore complex component [Gene - OMIM - HGNC]
  • NAPG:NSF attachment protein gamma [Gene - OMIM - HGNC]
  • POTEC:POTE ankyrin domain family member C [Gene - HGNC]
  • PRELID3A:PRELI domain containing 3A [Gene - OMIM - HGNC]
  • RAB12:RAB12, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB31:RAB31, member RAS oncogene family [Gene - OMIM - HGNC]
  • RNMT:RNA guanine-7 methyltransferase [Gene - OMIM - HGNC]
  • ARHGAP28:Rho GTPase activating protein 28 [Gene - OMIM - HGNC]
  • SEH1L:SEH1 like nucleoporin [Gene - OMIM - HGNC]
  • TGIF1:TGFB induced factor homeobox 1 [Gene - OMIM - HGNC]
  • THOC1:THO complex subunit 1 [Gene - OMIM - HGNC]
  • TYMSOS:TYMS opposite strand RNA [Gene - HGNC]
  • VAPA:VAMP associated protein A [Gene - OMIM - HGNC]
  • YES1:YES proto-oncogene 1, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • ADCYAP1:adenylate cyclase activating polypeptide 1 [Gene - OMIM - HGNC]
  • ANKRD12:ankyrin repeat domain 12 [Gene - OMIM - HGNC]
  • ANKRD30B:ankyrin repeat domain 30B [Gene - OMIM - HGNC]
  • ANKRD62:ankyrin repeat domain 62 [Gene - HGNC]
  • CIDEA:cell death inducing DFFA like effector a [Gene - OMIM - HGNC]
  • CETN1:centrin 1 [Gene - OMIM - HGNC]
  • CEP192:centrosomal protein 192 [Gene - OMIM - HGNC]
  • CEP76:centrosomal protein 76 [Gene - OMIM - HGNC]
  • CHMP1B:charged multivesicular body protein 1B [Gene - OMIM - HGNC]
  • CLUL1:clusterin like 1 [Gene - OMIM - HGNC]
  • COLEC12:collectin subfamily member 12 [Gene - OMIM - HGNC]
  • EMILIN2:elastin microfibril interfacer 2 [Gene - OMIM - HGNC]
  • ENOSF1:enolase superfamily member 1 [Gene - OMIM - HGNC]
  • EPB41L3:erythrocyte membrane protein band 4.1 like 3 [Gene - OMIM - HGNC]
  • FAM210A:family with sequence similarity 210 member A [Gene - OMIM - HGNC]
  • IMPA2:inositol monophosphatase 2 [Gene - OMIM - HGNC]
  • LAMA1:laminin subunit alpha 1 [Gene - OMIM - HGNC]
  • LRRC30:leucine rich repeat containing 30 [Gene - HGNC]
  • LPIN2:lipin 2 [Gene - OMIM - HGNC]
  • LDLRAD4:low density lipoprotein receptor class A domain containing 4 [Gene - OMIM - HGNC]
  • MC2R:melanocortin 2 receptor [Gene - OMIM - HGNC]
  • MC5R:melanocortin 5 receptor [Gene - OMIM - HGNC]
  • MPPE1:metallophosphoesterase 1 [Gene - OMIM - HGNC]
  • METTL4:methyltransferase 4, N6-adenosine [Gene - OMIM - HGNC]
  • MTCL1:microtubule crosslinking factor 1 [Gene - OMIM - HGNC]
  • MYOM1:myomesin 1 [Gene - OMIM - HGNC]
  • MYL12A:myosin light chain 12A [Gene - HGNC]
  • MYL12B:myosin light chain 12B [Gene - OMIM - HGNC]
  • PIEZO2:piezo type mechanosensitive ion channel component 2 [Gene - OMIM - HGNC]
  • PSMG2:proteasome assembly chaperone 2 [Gene - OMIM - HGNC]
  • PPP4R1:protein phosphatase 4 regulatory subunit 1 [Gene - OMIM - HGNC]
  • PTPN2:protein tyrosine phosphatase non-receptor type 2 [Gene - OMIM - HGNC]
  • PTPRM:protein tyrosine phosphatase receptor type M [Gene - OMIM - HGNC]
  • RALBP1:ralA binding protein 1 [Gene - OMIM - HGNC]
  • SLC35G4:solute carrier family 35 member G4 [Gene - HGNC]
  • SPIRE1:spire type actin nucleation factor 1 [Gene - OMIM - HGNC]
  • SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM - HGNC]
  • TXNDC2:thioredoxin domain containing 2 [Gene - OMIM - HGNC]
  • TYMS:thymidylate synthetase [Gene - OMIM - HGNC]
  • TMEM200C:transmembrane protein 200C [Gene - HGNC]
  • TUBB6:tubulin beta 6 class V [Gene - OMIM - HGNC]
  • TWSG1:twisted gastrulation BMP signaling modulator 1 [Gene - OMIM - HGNC]
  • USP14:ubiquitin specific peptidase 14 [Gene - OMIM - HGNC]
  • ZBTB14:zinc finger and BTB domain containing 14 [Gene - OMIM - HGNC]
  • ZNF519:zinc finger protein 519 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
18p11.32-11.21
Genomic location:
Chr18: 1 - 15157836 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1
HGVS:
NC_000018.9:g.(?_1)_(15157836_?)del
Links:
dbVar: nssv13643285; dbVar: nsv2775114
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
SCV000585465ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 2, 2014)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000585465.1

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

Last Updated: May 7, 2024