• replaced

GRCh37/hg19 18p11.32-q23(chr18:148763-78010173)x3 AND multiple conditions

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

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000052508.1

Allele description [Variation Report for GRCh37/hg19 18p11.32-q23(chr18:148763-78010173)x3]

Genes:
  • RALBP1:ralA binding protein 1 [Gene - OMIM]
  • AFG3L2:AFG3-like AAA ATPase 2 [Gene - OMIM]
  • MAPRE2:microtubule-associated protein, RP/EB family, member 2 [Gene - OMIM]
  • RAB31:RAB31, member RAS oncogene family [Gene - OMIM]
  • POLI:polymerase (DNA directed) iota [Gene - OMIM]
  • ADNP2:ADNP homeobox 2 [Gene]
  • TRAPPC8:trafficking protein particle complex 8 [Gene - OMIM]
  • EPB41L3:erythrocyte membrane protein band 4.1-like 3 [Gene - OMIM]
  • PHLPP1:PH domain and leucine rich repeat protein phosphatase 1 [Gene - OMIM]
  • ANKRD12:ankyrin repeat domain 12 [Gene - OMIM]
  • MTCL1:microtubule crosslinking factor 1 [Gene - OMIM]
  • NEDD4L:neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase [Gene - OMIM]
  • WDR7:WD repeat domain 7 [Gene - OMIM]
  • SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM]
  • PIGN:phosphatidylinositol glycan anchor biosynthesis, class N [Gene - OMIM]
  • SLC39A6:solute carrier family 39 (zinc transporter), member 6 [Gene - OMIM]
  • RTTN:rotatin [Gene - OMIM]
  • ZNF521:zinc finger protein 521 [Gene - OMIM]
  • TPGS2:tubulin polyglutamylase complex subunit 2 [Gene]
  • SETBP1:SET binding protein 1 [Gene - OMIM]
  • KCNG2:potassium voltage-gated channel, subfamily G, member 2 [Gene - OMIM]
  • CABYR:calcium binding tyrosine-(Y)-phosphorylation regulated [Gene - OMIM]
  • CLUL1:clusterin-like 1 (retinal) [Gene]
  • SALL3:spalt-like transcription factor 3 [Gene - OMIM]
  • CDH20:cadherin 20, type 2 [Gene - OMIM]
  • CDH19:cadherin 19, type 2 [Gene - OMIM]
  • TIMM21:translocase of inner mitochondrial membrane 21 homolog (yeast) [Gene - OMIM]
  • ST8SIA5:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 [Gene - OMIM]
  • C18orf8:chromosome 18 open reading frame 8 [Gene]
  • RAX:retina and anterior neural fold homeobox [Gene - OMIM]
  • CXXC1:CXXC finger protein 1 [Gene - OMIM]
  • ST8SIA3:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 [Gene - OMIM]
  • IER3IP1:immediate early response 3 interacting protein 1 [Gene - OMIM]
  • TCEB3B:transcription elongation factor B polypeptide 3B (elongin A2) [Gene - OMIM]
  • MEX3C:mex-3 RNA binding family member C [Gene - OMIM]
  • RNF138:ring finger protein 138, E3 ubiquitin protein ligase [Gene]
  • TMX3:thioredoxin-related transmembrane protein 3 [Gene]
  • DYM:dymeclin [Gene - OMIM]
  • ZCCHC2:zinc finger, CCHC domain containing 2 [Gene]
  • RNF125:ring finger protein 125, E3 ubiquitin protein ligase [Gene - OMIM]
  • MOCOS:molybdenum cofactor sulfurase [Gene - OMIM]
  • CEP192:centrosomal protein 192kDa [Gene]
  • RPRD1A:regulation of nuclear pre-mRNA domain containing 1A [Gene - OMIM]
  • ZNF532:zinc finger protein 532 [Gene]
  • ELP2:elongator acetyltransferase complex subunit 2 [Gene]
  • IMPACT:impact RWD domain protein [Gene - OMIM]
  • ELAC1:elaC ribonuclease Z 1 [Gene - OMIM]
  • ENOSF1:enolase superfamily member 1 [Gene - OMIM]
  • ZNF407:zinc finger protein 407 [Gene - OMIM]
  • CNDP2:CNDP dipeptidase 2 (metallopeptidase M20 family) [Gene - OMIM]
  • CELF4:CUGBP, Elav-like family member 4 [Gene - OMIM]
  • SPIRE1:spire-type actin nucleation factor 1 [Gene - OMIM]
  • PSMG2:proteasome (prosome, macropain) assembly chaperone 2 [Gene - OMIM]
  • TWSG1:twisted gastrulation BMP signaling modulator 1 [Gene - OMIM]
  • CHMP1B:charged multivesicular body protein 1B [Gene - OMIM]
  • MIB1:mindbomb E3 ubiquitin protein ligase 1 [Gene - OMIM]
  • KLHL14:kelch-like family member 14 [Gene - OMIM]
  • EPG5:ectopic P-granules autophagy protein 5 homolog (C. elegans) [Gene - OMIM]
  • HRH4:histamine receptor H4 [Gene - OMIM]
  • PIEZO2:piezo-type mechanosensitive ion channel component 2 [Gene - OMIM]
  • CTAGE1:cutaneous T-cell lymphoma-associated antigen 1 [Gene - OMIM]
  • GAREM:GRB2 associated, regulator of MAPK1 [Gene]
  • METTL4:methyltransferase like 4 [Gene]
  • MPPE1:metallophosphoesterase 1 [Gene - OMIM]
  • ARHGAP28:Rho GTPase activating protein 28 [Gene - OMIM]
  • CCDC102B:coiled-coil domain containing 102B [Gene]
  • RBFA:ribosome binding factor A (putative) [Gene]
  • CEP76:centrosomal protein 76kDa [Gene]
  • GREB1L:growth regulation by estrogen in breast cancer-like [Gene]
  • PQLC1:PQ loop repeat containing 1 [Gene]
  • FHOD3:formin homology 2 domain containing 3 [Gene - OMIM]
  • CCDC68:coiled-coil domain containing 68 [Gene]
  • ASXL3:additional sex combs like transcriptional regulator 3 [Gene - OMIM]
  • COLEC12:collectin sub-family member 12 [Gene - OMIM]
  • NETO1:neuropilin (NRP) and tolloid (TLL)-like 1 [Gene - OMIM]
  • SEH1L:SEH1-like (S. cerevisiae) [Gene - OMIM]
  • KATNAL2:katanin p60 subunit A-like 2 [Gene - OMIM]
  • CHST9:carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 [Gene - OMIM]
  • C18orf21:chromosome 18 open reading frame 21 [Gene]
  • MRO:maestro [Gene - OMIM]
  • EMILIN2:elastin microfibril interfacer 2 [Gene - OMIM]
  • HDHD2:haloacid dehalogenase-like hydrolase domain containing 2 [Gene]
  • TXNDC2:thioredoxin domain containing 2 (spermatozoa) [Gene]
  • ZNF397:zinc finger protein 397 [Gene - OMIM]
  • PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM]
  • TUBB6:tubulin, beta 6 class V [Gene - OMIM]
  • CNDP1:carnosine dipeptidase 1 (metallopeptidase M20 family) [Gene - OMIM]
  • TMEM241:transmembrane protein 241 [Gene - OMIM]
  • SERPINB12:serpin peptidase inhibitor, clade B (ovalbumin), member 12 [Gene - OMIM]
  • SERPINB11:serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) [Gene - OMIM]
  • SEC11C:SEC11 homolog C (S. cerevisiae) [Gene]
  • L3MBTL4:l(3)mbt-like 4 (Drosophila) [Gene]
  • CABLES1:Cdk5 and Abl enzyme substrate 1 [Gene - OMIM]
  • DSEL:dermatan sulfate epimerase-like [Gene - OMIM]
  • MYL12B:myosin, light chain 12B, regulatory [Gene - OMIM]
  • ESCO1:establishment of sister chromatid cohesion N-acetyltransferase 1 [Gene - OMIM]
  • OSBPL1A:oxysterol binding protein-like 1A [Gene - OMIM]
  • HAUS1:HAUS augmin-like complex, subunit 1 [Gene - OMIM]
  • ALPK2:alpha-kinase 2 [Gene]
  • FAM210A:family with sequence similarity 210, member A [Gene]
  • LOXHD1:lipoxygenase homology domains 1 [Gene - OMIM]
  • INO80C:INO80 complex subunit C [Gene]
  • TTC39C:tetratricopeptide repeat domain 39C [Gene]
  • FAM69C:family with sequence similarity 69, member C [Gene - OMIM]
  • PSMA8:proteasome (prosome, macropain) subunit, alpha type, 8 [Gene]
  • STARD6:StAR-related lipid transfer (START) domain containing 6 [Gene - OMIM]
  • C18orf25:chromosome 18 open reading frame 25 [Gene]
  • CCBE1:collagen and calcium binding EGF domains 1 [Gene - OMIM]
  • CBLN2:cerebellin 2 precursor [Gene - OMIM]
  • SLC25A52:solute carrier family 25, member 52 [Gene]
  • DSG4:desmoglein 4 [Gene - OMIM]
  • ANKRD29:ankyrin repeat domain 29 [Gene]
  • APCDD1:adenomatosis polyposis coli down-regulated 1 [Gene - OMIM]
  • ZNF519:zinc finger protein 519 [Gene]
  • C18orf54:chromosome 18 open reading frame 54 [Gene - OMIM]
  • TCEB3C:transcription elongation factor B polypeptide 3C (elongin A3) [Gene]
  • ABHD3:abhydrolase domain containing 3 [Gene - OMIM]
  • FBXO15:F-box protein 15 [Gene - OMIM]
  • RAB12:RAB12, member RAS oncogene family [Gene]
  • ZBTB7C:zinc finger and BTB domain containing 7C [Gene]
  • SKA1:spindle and kinetochore associated complex subunit 1 [Gene]
  • CCDC11:coiled-coil domain containing 11 [Gene - OMIM]
  • DOK6:docking protein 6 [Gene - OMIM]
  • RNF152:ring finger protein 152 [Gene]
  • ZNF396:zinc finger protein 396 [Gene - OMIM]
  • LAMA1:laminin, alpha 1 [Gene - OMIM]
  • KCTD1:potassium channel tetramerization domain containing 1 [Gene - OMIM]
  • DYNAP:dynactin associated protein [Gene]
  • BOD1L2:biorientation of chromosomes in cell division 1-like 2 [Gene]
  • SIGLEC15:sialic acid binding Ig-like lectin 15 [Gene]
  • ZADH2:zinc binding alcohol dehydrogenase domain containing 2 [Gene]
  • SMIM21:small integral membrane protein 21 [Gene]
  • HMSD:histocompatibility (minor) serpin domain containing [Gene - OMIM]
  • LRRC30:leucine rich repeat containing 30 [Gene]
  • CPLX4:complexin 4 [Gene - OMIM]
  • ANKRD62:ankyrin repeat domain 62 [Gene]
  • ANKRD30B:ankyrin repeat domain 30B [Gene]
  • CCDC178:coiled-coil domain containing 178 [Gene]
  • ATP9B:ATPase, class II, type 9B [Gene - OMIM]
  • POTEC:POTE ankyrin domain family, member C [Gene]
  • MIR1-2:microRNA 1-2 [Gene - OMIM]
  • MIR122:microRNA 122 [Gene - OMIM]
  • MIR133A1:microRNA 133a-1 [Gene - OMIM]
  • MIR187:microRNA 187 [Gene - OMIM]
  • HSBP1L1:heat shock factor binding protein 1-like 1 [Gene]
  • RNF165:ring finger protein 165 [Gene]
  • TYMSOS:TYMS opposite strand [Gene]
  • C18orf32:chromosome 18 open reading frame 32 [Gene]
  • C18orf42:chromosome 18 open reading frame 42 [Gene]
  • C18orf63:chromosome 18 open reading frame 63 [Gene]
  • TMEM200C:transmembrane protein 200C [Gene]
  • SLC35G4P:solute carrier family 35, member G4, pseudogene [Gene]
  • SKOR2:SKI family transcriptional corepressor 2 [Gene]
  • TCEB3CL:transcription elongation factor B polypeptide 3C-like [Gene]
  • ZSCAN30:zinc finger and SCAN domain containing 30 [Gene]
  • TCEB3CL2:transcription elongation factor B polypeptide 3C-like 2 [Gene]
  • RPL17-C18orf32:RPL17-C18orf32 readthrough [Gene]
  • LINC-ROR:long intergenic non-protein coding RNA, regulator of reprogramming [Gene - OMIM]
  • ADCYAP1:adenylate cyclase activating polypeptide 1 (pituitary) [Gene - OMIM]
  • AQP4:aquaporin 4 [Gene - OMIM]
  • ATP5A1:ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle [Gene - OMIM]
  • BCL2:B-cell CLL/lymphoma 2 [Gene - OMIM]
  • LDLRAD4:low density lipoprotein receptor class A domain containing 4 [Gene - OMIM]
  • CDH2:cadherin 2, type 1, N-cadherin (neuronal) [Gene - OMIM]
  • CDH7:cadherin 7, type 2 [Gene - OMIM]
  • CETN1:centrin, EF-hand protein, 1 [Gene - OMIM]
  • CIDEA:cell death-inducing DFFA-like effector a [Gene - OMIM]
  • CYB5A:cytochrome b5 type A (microsomal) [Gene - OMIM]
  • DCC:DCC netrin 1 receptor [Gene - OMIM]
  • DSC1:desmocollin 1 [Gene - OMIM]
  • DSC2:desmocollin 2 [Gene - OMIM]
  • DSC3:desmocollin 3 [Gene - OMIM]
  • DSG1:desmoglein 1 [Gene - OMIM]
  • DSG2:desmoglein 2 [Gene - OMIM]
  • DSG3:desmoglein 3 [Gene - OMIM]
  • DTNA:dystrobrevin, alpha [Gene - OMIM]
  • FECH:ferrochelatase [Gene - OMIM]
  • KDSR:3-ketodihydrosphingosine reductase [Gene - OMIM]
  • GALR1:galanin receptor 1 [Gene - OMIM]
  • GALNT1:polypeptide N-acetylgalactosaminyltransferase 1 [Gene - OMIM]
  • GATA6:GATA binding protein 6 [Gene - OMIM]
  • GNAL:guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type [Gene - OMIM]
  • GRP:gastrin-releasing peptide [Gene - OMIM]
  • IMPA2:inositol(myo)-1(or 4)-monophosphatase 2 [Gene - OMIM]
  • LAMA3:laminin, alpha 3 [Gene - OMIM]
  • LMAN1:lectin, mannose-binding, 1 [Gene - OMIM]
  • SMAD2:SMAD family member 2 [Gene - OMIM]
  • SMAD4:SMAD family member 4 [Gene - OMIM]
  • SMAD7:SMAD family member 7 [Gene - OMIM]
  • MBD1:methyl-CpG binding domain protein 1 [Gene - OMIM]
  • MBP:myelin basic protein [Gene - OMIM]
  • MC2R:melanocortin 2 receptor (adrenocorticotropic hormone) [Gene - OMIM]
  • MC4R:melanocortin 4 receptor [Gene - OMIM]
  • MC5R:melanocortin 5 receptor [Gene - OMIM]
  • ME2:malic enzyme 2, NAD(+)-dependent, mitochondrial [Gene - OMIM]
  • MEP1B:meprin A, beta [Gene - OMIM]
  • MYO5B:myosin VB [Gene - OMIM]
  • NARS:asparaginyl-tRNA synthetase [Gene - OMIM]
  • NDUFV2:NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa [Gene - OMIM]
  • NFATC1:nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 [Gene - OMIM]
  • NPC1:Niemann-Pick disease, type C1 [Gene - OMIM]
  • SERPINB2:serpin peptidase inhibitor, clade B (ovalbumin), member 2 [Gene - OMIM]
  • ATP8B1:ATPase, aminophospholipid transporter, class I, type 8B, member 1 [Gene - OMIM]
  • SERPINB5:serpin peptidase inhibitor, clade B (ovalbumin), member 5 [Gene - OMIM]
  • SERPINB8:serpin peptidase inhibitor, clade B (ovalbumin), member 8 [Gene - OMIM]
  • SERPINB10:serpin peptidase inhibitor, clade B (ovalbumin), member 10 [Gene - OMIM]
  • SERPINB13:serpin peptidase inhibitor, clade B (ovalbumin), member 13 [Gene - OMIM]
  • PIK3C3:phosphatidylinositol 3-kinase, catalytic subunit type 3 [Gene - OMIM]
  • PMAIP1:phorbol-12-myristate-13-acetate-induced protein 1 [Gene - OMIM]
  • MAPK4:mitogen-activated protein kinase 4 [Gene - OMIM]
  • PTPN2:protein tyrosine phosphatase, non-receptor type 2 [Gene - OMIM]
  • PTPRM:protein tyrosine phosphatase, receptor type, M [Gene - OMIM]
  • RAB27B:RAB27B, member RAS oncogene family [Gene - OMIM]
  • RBBP8:retinoblastoma binding protein 8 [Gene - OMIM]
  • RIT2:Ras-like without CAAX 2 [Gene - OMIM]
  • ROCK1:Rho-associated, coiled-coil containing protein kinase 1 [Gene - OMIM]
  • RPL17:ribosomal protein L17 [Gene - OMIM]
  • SERPINB3:serpin peptidase inhibitor, clade B (ovalbumin), member 3 [Gene - OMIM]
  • SERPINB4:serpin peptidase inhibitor, clade B (ovalbumin), member 4 [Gene - OMIM]
  • SLC14A1:solute carrier family 14 (urea transporter), member 1 (Kidd blood group) [Gene - OMIM]
  • SNRPD1:small nuclear ribonucleoprotein D1 polypeptide 16kDa [Gene - OMIM]
  • SS18:synovial sarcoma translocation, chromosome 18 [Gene - OMIM]
  • SYT4:synaptotagmin IV [Gene - OMIM]
  • TAF4B:TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa [Gene - OMIM]
  • TCF4:transcription factor 4 [Gene - OMIM]
  • TGIF1:TGFB-induced factor homeobox 1 [Gene - OMIM]
  • TTR:transthyretin [Gene - OMIM]
  • TYMS:thymidylate synthetase [Gene - OMIM]
  • YES1:YES proto-oncogene 1, Src family tyrosine kinase [Gene - OMIM]
  • ZBTB14:zinc finger and BTB domain containing 14 [Gene - OMIM]
  • ZNF24:zinc finger protein 24 [Gene - OMIM]
  • ZNF236:zinc finger protein 236 [Gene - OMIM]
  • SLC14A2:solute carrier family 14 (urea transporter), member 2 [Gene - OMIM]
  • SERPINB7:serpin peptidase inhibitor, clade B (ovalbumin), member 7 [Gene - OMIM]
  • NOL4:nucleolar protein 4 [Gene - OMIM]
  • RNMT:RNA (guanine-7-) methyltransferase [Gene - OMIM]
  • MYOM1:myomesin 1 [Gene - OMIM]
  • NAPG:N-ethylmaleimide-sensitive factor attachment protein, gamma [Gene - OMIM]
  • RIOK3:RIO kinase 3 [Gene - OMIM]
  • TNFRSF11A:tumor necrosis factor receptor superfamily, member 11a, NFKB activator [Gene - OMIM]
  • MBD2:methyl-CpG binding domain protein 2 [Gene - OMIM]
  • PSTPIP2:proline-serine-threonine phosphatase interacting protein 2 [Gene]
  • PIAS2:protein inhibitor of activated STAT, 2 [Gene - OMIM]
  • USP14:ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) [Gene - OMIM]
  • CTDP1:CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 [Gene - OMIM]
  • VAPA:VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa [Gene - OMIM]
  • DLGAP1:discs, large (Drosophila) homolog-associated protein 1 [Gene - OMIM]
  • SOCS6:suppressor of cytokine signaling 6 [Gene - OMIM]
  • B4GALT6:UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 [Gene - OMIM]
  • TXNL1:thioredoxin-like 1 [Gene - OMIM]
  • LIPG:lipase, endothelial [Gene - OMIM]
  • ONECUT2:one cut homeobox 2 [Gene - OMIM]
  • VPS4B:vacuolar protein sorting 4 homolog B (S. cerevisiae) [Gene - OMIM]
  • ZNF516:zinc finger protein 516 [Gene - OMIM]
  • LPIN2:lipin 2 [Gene - OMIM]
  • CTIF:CBP80/20-dependent translation initiation factor [Gene - OMIM]
  • THOC1:THO complex 1 [Gene - OMIM]
  • PPP4R1:protein phosphatase 4, regulatory subunit 1 [Gene - OMIM]
  • TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM]
  • NDC80:NDC80 kinetochore complex component [Gene - OMIM]
  • ACAA2:acetyl-CoA acyltransferase 2 [Gene - OMIM]
  • MYL12A:myosin, light chain 12A, regulatory, non-sarcomeric [Gene]
  • SLMO1:slowmo homolog 1 (Drosophila) [Gene]
  • CD226:CD226 molecule [Gene - OMIM]
  • ZNF271:zinc finger protein 271 [Gene - OMIM]
  • MALT1:mucosa associated lymphoid tissue lymphoma translocation gene 1 [Gene - OMIM]
  • TXNL4A:thioredoxin-like 4A [Gene - OMIM]
Variant type:
copy number gain
Cytogenetic location:
18p11.32-q23
Preferred name:
GRCh37/hg19 18p11.32-q23(chr18:148763-78010173)x3
HGVS:
NC_000018.9:g.(?_148763)_(78010173_?)dup
Links:
dbVar: nsv531215
Observations:
1

Condition(s)

Name:
Intrauterine growth restriction
Synonyms:
Intrauterine growth retardation
Identifiers:
MedGen: C0015934
Name:
Respiratory distress
Identifiers:
MedGen: C0476273

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000079862International Standards For Cytogenomic Arrays Consortium (ISCA)classified by single submitterPathogenic
(Aug 12, 2011)
not providedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes 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

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 International Standards For Cytogenomic Arrays Consortium (ISCA), SCV000079862.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Aug 16, 2014

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