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GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 14, 2017
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:
RCV000599143.2

Allele description [Variation Report for GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1]

GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)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 - 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: 13034 - 15375878 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1
HGVS:
NC_000018.9:g.(?_13034)_(15375878_?)del
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
SCV000709770Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)
Pathogenic
(Sep 14, 2017)
de novoclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Clinical Cytogenomics Laboratory Policy on CNV Interpretation.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedclinical testing

Citations

PubMed

A review of 18p deletions.

Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, Rupert D, Perry B, Atkinson S, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE, Cody JD.

Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):251-64. doi: 10.1002/ajmg.c.31445. Epub 2015 Aug 6.

PubMed [citation]
PMID:
26250845

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, VĂ©lez JI, Roessler E, Muenke M.

Mol Syndromol. 2010;1(5):211-222. Epub 2011 May 18.

PubMed [citation]
PMID:
22125506
PMCID:
PMC3214944
See all PubMed Citations (4)

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000709770.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedAmniocytesnot provided1not provided1not provided

Last Updated: Dec 11, 2022