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GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 10, 2011
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:
RCV000137503.6

Allele description [Variation Report for GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1]

GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1

Genes:
  • AFG3L2:AFG3 like matrix AAA peptidase subunit 2 [Gene - OMIM - HGNC]
  • APCDD1:APC down-regulated 1 [Gene - OMIM - HGNC]
  • LOC130062136:ATAC-STARR-seq lymphoblastoid active region 13062 [Gene]
  • LOC130062139:ATAC-STARR-seq lymphoblastoid active region 13063 [Gene]
  • LOC130062141:ATAC-STARR-seq lymphoblastoid active region 13066 [Gene]
  • LOC130062142:ATAC-STARR-seq lymphoblastoid active region 13067 [Gene]
  • LOC130062143:ATAC-STARR-seq lymphoblastoid active region 13068 [Gene]
  • LOC130062144:ATAC-STARR-seq lymphoblastoid active region 13069 [Gene]
  • LOC130062146:ATAC-STARR-seq lymphoblastoid active region 13070 [Gene]
  • LOC130062148:ATAC-STARR-seq lymphoblastoid active region 13071 [Gene]
  • LOC130062150:ATAC-STARR-seq lymphoblastoid active region 13072 [Gene]
  • LOC130062153:ATAC-STARR-seq lymphoblastoid active region 13074 [Gene]
  • LOC130062154:ATAC-STARR-seq lymphoblastoid active region 13076 [Gene]
  • LOC130062158:ATAC-STARR-seq lymphoblastoid active region 13077 [Gene]
  • LOC130062162:ATAC-STARR-seq lymphoblastoid active region 13078 [Gene]
  • LOC130062165:ATAC-STARR-seq lymphoblastoid active region 13080 [Gene]
  • LOC130062166:ATAC-STARR-seq lymphoblastoid active region 13081 [Gene]
  • LOC130062167:ATAC-STARR-seq lymphoblastoid active region 13082 [Gene]
  • LOC130062169:ATAC-STARR-seq lymphoblastoid active region 13083 [Gene]
  • LOC130062170:ATAC-STARR-seq lymphoblastoid active region 13084 [Gene]
  • LOC130062171:ATAC-STARR-seq lymphoblastoid active region 13085 [Gene]
  • LOC130062172:ATAC-STARR-seq lymphoblastoid active region 13086 [Gene]
  • LOC130062173:ATAC-STARR-seq lymphoblastoid active region 13087 [Gene]
  • LOC130062174:ATAC-STARR-seq lymphoblastoid active region 13088 [Gene]
  • LOC130062175:ATAC-STARR-seq lymphoblastoid active region 13089 [Gene]
  • LOC130062176:ATAC-STARR-seq lymphoblastoid active region 13090 [Gene]
  • LOC130062177:ATAC-STARR-seq lymphoblastoid active region 13091 [Gene]
  • LOC130062178:ATAC-STARR-seq lymphoblastoid active region 13092 [Gene]
  • LOC130062180:ATAC-STARR-seq lymphoblastoid active region 13093 [Gene]
  • LOC130062181:ATAC-STARR-seq lymphoblastoid active region 13094 [Gene]
  • LOC130062185:ATAC-STARR-seq lymphoblastoid active region 13095 [Gene]
  • LOC130062186:ATAC-STARR-seq lymphoblastoid active region 13096 [Gene]
  • LOC130062188:ATAC-STARR-seq lymphoblastoid active region 13098 [Gene]
  • LOC130062190:ATAC-STARR-seq lymphoblastoid active region 13099 [Gene]
  • LOC130062192:ATAC-STARR-seq lymphoblastoid active region 13100 [Gene]
  • LOC130062203:ATAC-STARR-seq lymphoblastoid active region 13105 [Gene]
  • LOC130062204:ATAC-STARR-seq lymphoblastoid active region 13106 [Gene]
  • LOC130062205:ATAC-STARR-seq lymphoblastoid active region 13107 [Gene]
  • LOC130062206:ATAC-STARR-seq lymphoblastoid active region 13108 [Gene]
  • LOC130062207:ATAC-STARR-seq lymphoblastoid active region 13109 [Gene]
  • LOC130062208:ATAC-STARR-seq lymphoblastoid active region 13110 [Gene]
  • LOC130062209:ATAC-STARR-seq lymphoblastoid active region 13111 [Gene]
  • LOC130062216:ATAC-STARR-seq lymphoblastoid active region 13112 [Gene]
  • LOC130062133:ATAC-STARR-seq lymphoblastoid silent region 9270 [Gene]
  • LOC130062134:ATAC-STARR-seq lymphoblastoid silent region 9271 [Gene]
  • LOC130062135:ATAC-STARR-seq lymphoblastoid silent region 9272 [Gene]
  • LOC130062137:ATAC-STARR-seq lymphoblastoid silent region 9273 [Gene]
  • LOC130062138:ATAC-STARR-seq lymphoblastoid silent region 9274 [Gene]
  • LOC130062140:ATAC-STARR-seq lymphoblastoid silent region 9276 [Gene]
  • LOC130062145:ATAC-STARR-seq lymphoblastoid silent region 9277 [Gene]
  • LOC130062147:ATAC-STARR-seq lymphoblastoid silent region 9278 [Gene]
  • LOC130062149:ATAC-STARR-seq lymphoblastoid silent region 9279 [Gene]
  • LOC130062151:ATAC-STARR-seq lymphoblastoid silent region 9280 [Gene]
  • LOC130062152:ATAC-STARR-seq lymphoblastoid silent region 9281 [Gene]
  • LOC130062155:ATAC-STARR-seq lymphoblastoid silent region 9284 [Gene]
  • LOC130062156:ATAC-STARR-seq lymphoblastoid silent region 9285 [Gene]
  • LOC130062157:ATAC-STARR-seq lymphoblastoid silent region 9286 [Gene]
  • LOC130062159:ATAC-STARR-seq lymphoblastoid silent region 9287 [Gene]
  • LOC130062160:ATAC-STARR-seq lymphoblastoid silent region 9288 [Gene]
  • LOC130062161:ATAC-STARR-seq lymphoblastoid silent region 9289 [Gene]
  • LOC130062163:ATAC-STARR-seq lymphoblastoid silent region 9290 [Gene]
  • LOC130062164:ATAC-STARR-seq lymphoblastoid silent region 9292 [Gene]
  • LOC130062168:ATAC-STARR-seq lymphoblastoid silent region 9293 [Gene]
  • LOC130062179:ATAC-STARR-seq lymphoblastoid silent region 9294 [Gene]
  • LOC130062182:ATAC-STARR-seq lymphoblastoid silent region 9297 [Gene]
  • LOC130062183:ATAC-STARR-seq lymphoblastoid silent region 9298 [Gene]
  • LOC130062184:ATAC-STARR-seq lymphoblastoid silent region 9299 [Gene]
  • LOC130062187:ATAC-STARR-seq lymphoblastoid silent region 9301 [Gene]
  • LOC130062189:ATAC-STARR-seq lymphoblastoid silent region 9304 [Gene]
  • LOC130062191:ATAC-STARR-seq lymphoblastoid silent region 9305 [Gene]
  • LOC130062193:ATAC-STARR-seq lymphoblastoid silent region 9306 [Gene]
  • LOC130062194:ATAC-STARR-seq lymphoblastoid silent region 9307 [Gene]
  • LOC130062195:ATAC-STARR-seq lymphoblastoid silent region 9308 [Gene]
  • LOC130062196:ATAC-STARR-seq lymphoblastoid silent region 9309 [Gene]
  • LOC130062197:ATAC-STARR-seq lymphoblastoid silent region 9310 [Gene]
  • LOC130062198:ATAC-STARR-seq lymphoblastoid silent region 9313 [Gene]
  • LOC130062199:ATAC-STARR-seq lymphoblastoid silent region 9314 [Gene]
  • LOC130062200:ATAC-STARR-seq lymphoblastoid silent region 9315 [Gene]
  • LOC130062201:ATAC-STARR-seq lymphoblastoid silent region 9317 [Gene]
  • LOC130062202:ATAC-STARR-seq lymphoblastoid silent region 9318 [Gene]
  • LOC130062210:ATAC-STARR-seq lymphoblastoid silent region 9319 [Gene]
  • LOC130062211:ATAC-STARR-seq lymphoblastoid silent region 9320 [Gene]
  • LOC130062212:ATAC-STARR-seq lymphoblastoid silent region 9321 [Gene]
  • LOC130062213:ATAC-STARR-seq lymphoblastoid silent region 9322 [Gene]
  • LOC130062214:ATAC-STARR-seq lymphoblastoid silent region 9323 [Gene]
  • LOC130062215:ATAC-STARR-seq lymphoblastoid silent region 9324 [Gene]
  • LOC130062217:ATAC-STARR-seq lymphoblastoid silent region 9326 [Gene]
  • LOC130062218:ATAC-STARR-seq lymphoblastoid silent region 9327 [Gene]
  • LOC126862695:BRD4-independent group 4 enhancer GRCh37_chr18:10413718-10414917 [Gene]
  • LOC126862696:BRD4-independent group 4 enhancer GRCh37_chr18:10769534-10770733 [Gene]
  • LOC126862690:BRD4-independent group 4 enhancer GRCh37_chr18:8296475-8297674 [Gene]
  • LOC126862692:BRD4-independent group 4 enhancer GRCh37_chr18:8635328-8636527 [Gene]
  • LOC108318665:C18orf61 intron ENCODE-defined enhancer [Gene]
  • LOC116276487:CRISPRi-validated cis-regulatory element chr18.299 [Gene]
  • LOC116276488:CRISPRi-validated cis-regulatory element chr18.300 [Gene]
  • LOC116276489:CRISPRi-validated cis-regulatory element chr18.397 [Gene]
  • GNAL:G protein subunit alpha L [Gene - OMIM - HGNC]
  • LOC126862687:MED14-independent group 3 enhancer GRCh37_chr18:7727774-7728973 [Gene]
  • LOC129390957:MPRA-validated peak3053 silencer [Gene]
  • LOC129390958:MPRA-validated peak3058 silencer [Gene]
  • NDUFV2:NADH:ubiquinone oxidoreductase core subunit V2 [Gene - OMIM - HGNC]
  • NDUFV2-AS1:NDUFV2 antisense RNA 1 [Gene - HGNC]
  • NAPG:NSF attachment protein gamma [Gene - OMIM - HGNC]
  • LOC132090898:Neanderthal introgressed variant-containing enhancer experimental_47746 [Gene]
  • LOC132090531:Neanderthal introgressed variant-containing enhancer experimental_50729 [Gene]
  • LOC126862697:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:11856862-11858061 [Gene]
  • LOC126862688:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:8045403-8046602 [Gene]
  • LOC126862689:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:8141627-8142826 [Gene]
  • LOC126862691:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:8521740-8522939 [Gene]
  • LOC126862693:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:8800176-8801375 [Gene]
  • LOC126862694:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:9017064-9018263 [Gene]
  • PPP4R1-AS1:PPP4R1 antisense RNA 1 [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]
  • SEH1L:SEH1 like nucleoporin [Gene - OMIM - HGNC]
  • LOC112543435:Sharpr-MPRA regulatory region 10096 [Gene]
  • LOC125368544:Sharpr-MPRA regulatory region 1128 [Gene]
  • LOC125368542:Sharpr-MPRA regulatory region 12110 [Gene]
  • LOC112543436:Sharpr-MPRA regulatory region 12333 [Gene]
  • LOC125368546:Sharpr-MPRA regulatory region 14785 [Gene]
  • LOC125368550:Sharpr-MPRA regulatory region 1882 [Gene]
  • LOC121627822:Sharpr-MPRA regulatory region 1937 [Gene]
  • LOC125368543:Sharpr-MPRA regulatory region 3848 [Gene]
  • LOC112543437:Sharpr-MPRA regulatory region 4522 [Gene]
  • LOC125368548:Sharpr-MPRA regulatory region 7933 [Gene]
  • LOC125368541:Sharpr-MPRA regulatory region 9307 [Gene]
  • LOC125368551:Sharpr-MPRA regulatory region 933 [Gene]
  • LOC125368547:Sharpr-MPRA regulatory region 95 [Gene]
  • TWSG1-DT:TWSG1 divergent transcript [Gene - HGNC]
  • VAPA:VAMP associated protein A [Gene - OMIM - HGNC]
  • LOC110121440:VISTA enhancer hs1751 [Gene]
  • ANKRD12:ankyrin repeat domain 12 [Gene - OMIM - HGNC]
  • ANKRD62:ankyrin repeat domain 62 [Gene - HGNC]
  • CIDEA:cell death inducing DFFA like effector a [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]
  • GACAT2:gastric cancer associated transcript 2 [Gene - OMIM - HGNC]
  • IMPA2:inositol monophosphatase 2 [Gene - OMIM - HGNC]
  • LINC01254:long intergenic non-protein coding RNA 1254 [Gene - HGNC]
  • LINC01255:long intergenic non-protein coding RNA 1255 [Gene - HGNC]
  • LINC01882:long intergenic non-protein coding RNA 1882 [Gene - HGNC]
  • LINC01887:long intergenic non-protein coding RNA 1887 [Gene - HGNC]
  • LINC01928:long intergenic non-protein coding RNA 1928 [Gene - HGNC]
  • MPPE1:metallophosphoesterase 1 [Gene - OMIM - HGNC]
  • MIR6788:microRNA 6788 [Gene - HGNC]
  • MIR7153:microRNA 7153 [Gene - HGNC]
  • MTCL1:microtubule crosslinking factor 1 [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]
  • TXNDC2:thioredoxin domain containing 2 [Gene - OMIM - HGNC]
  • TUBB6:tubulin beta 6 class V [Gene - OMIM - HGNC]
  • TWSG1:twisted gastrulation BMP signaling modulator 1 [Gene - OMIM - HGNC]
  • LOC100192426:uncharacterized LOC100192426 [Gene]
  • LOC101927410:uncharacterized LOC101927410 [Gene]
  • LOC105371995:uncharacterized LOC105371995 [Gene]
  • LOC105371998:uncharacterized LOC105371998 [Gene]
  • LOC112577592:uncharacterized LOC112577592 [Gene]
  • C18orf61:uncharacterized LOC497259 [Gene]
Variant type:
copy number loss
Cytogenetic location:
18p11.23-11.21
Genomic location:
Preferred name:
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1
HGVS:
  • NC_000018.10:g.(?_7290175)_(13049470_?)del
  • NC_000018.8:g.(?_7280173)_(13039469_?)del
  • NC_000018.9:g.(?_7290173)_(13049469_?)del
Links:
dbVar: nssv1415374; dbVar: nsv817438
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000177728ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Oct 10, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000177728.4

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

Last Updated: May 7, 2024