GRCh37/hg19 1q32.2-44(chr1:209819552-249225312)x3 AND Macrocephaly

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

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000051861.1

Allele description [Variation Report for GRCh37/hg19 1q32.2-44(chr1:209819552-249225312)x3]

Genes:
  • PRSS38:protease, serine, 38 [Gene]
  • RD3:retinal degeneration 3 [Gene - OMIM]
  • OR6F1:olfactory receptor, family 6, subfamily F, member 1 [Gene]
  • OR2W3:olfactory receptor, family 2, subfamily W, member 3 [Gene]
  • OR2T8:olfactory receptor, family 2, subfamily T, member 8 [Gene]
  • OR2T3:olfactory receptor, family 2, subfamily T, member 3 [Gene]
  • OR2T29:olfactory receptor, family 2, subfamily T, member 29 [Gene]
  • IRF2BP2:interferon regulatory factor 2 binding protein 2 [Gene - OMIM]
  • MIA3:melanoma inhibitory activity family, member 3 [Gene - OMIM]
  • C1orf95:chromosome 1 open reading frame 95 [Gene]
  • FAM89A:family with sequence similarity 89, member A [Gene]
  • CAPN8:calpain 8 [Gene]
  • COA6:cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) [Gene - OMIM]
  • C1orf229:chromosome 1 open reading frame 229 [Gene]
  • OR11L1:olfactory receptor, family 11, subfamily L, member 1 [Gene]
  • OR2L8:olfactory receptor, family 2, subfamily L, member 8 [Gene]
  • OR2AK2:olfactory receptor, family 2, subfamily AK, member 2 [Gene]
  • OR2L3:olfactory receptor, family 2, subfamily L, member 3 [Gene]
  • OR2M2:olfactory receptor, family 2, subfamily M, member 2 [Gene]
  • OR2T33:olfactory receptor, family 2, subfamily T, member 33 [Gene]
  • OR2M7:olfactory receptor, family 2, subfamily M, member 7 [Gene]
  • OR2G6:olfactory receptor, family 2, subfamily G, member 6 [Gene]
  • FAM177B:family with sequence similarity 177, member B [Gene]
  • OR2T2:olfactory receptor, family 2, subfamily T, member 2 [Gene]
  • OR2T5:olfactory receptor, family 2, subfamily T, member 5 [Gene]
  • OR14I1:olfactory receptor, family 14, subfamily I, member 1 [Gene]
  • OR2T27:olfactory receptor, family 2, subfamily T, member 27 [Gene]
  • OR2T35:olfactory receptor, family 2, subfamily T, member 35 [Gene]
  • MIR194-1:microRNA 194-1 [Gene - OMIM]
  • MIR215:microRNA 215 [Gene - OMIM]
  • TRIM67:tripartite motif containing 67 [Gene - OMIM]
  • MAP1LC3C:microtubule-associated protein 1 light chain 3 gamma [Gene - OMIM]
  • OR2W5:olfactory receptor, family 2, subfamily W, member 5 [Gene]
  • OR13G1:olfactory receptor, family 13, subfamily G, member 1 [Gene - OMIM]
  • FLVCR1-AS1:FLVCR1 antisense RNA 1 (head to head) [Gene - OMIM]
  • MT1HL1:metallothionein 1H-like 1 [Gene]
  • LYPD8:LY6/PLAUR domain containing 8 [Gene]
  • BTNL10:butyrophilin-like 10 [Gene]
  • LINC00538:long intergenic non-protein coding RNA 538 [Gene - OMIM]
  • ACTA1:actin, alpha 1, skeletal muscle [Gene - OMIM]
  • ACTN2:actinin, alpha 2 [Gene - OMIM]
  • PARP1:poly (ADP-ribose) polymerase 1 [Gene - OMIM]
  • ADSS:adenylosuccinate synthase [Gene - OMIM]
  • AGT:angiotensinogen (serpin peptidase inhibitor, clade A, member 8) [Gene - OMIM]
  • ARF1:ADP-ribosylation factor 1 [Gene - OMIM]
  • ATF3:activating transcription factor 3 [Gene - OMIM]
  • CAPN2:calpain 2, (m/II) large subunit [Gene - OMIM]
  • CENPF:centromere protein F, 350/400kDa [Gene - OMIM]
  • CHML:choroideremia-like (Rab escort protein 2) [Gene - OMIM]
  • LYST:lysosomal trafficking regulator [Gene - OMIM]
  • CHRM3:cholinergic receptor, muscarinic 3 [Gene - OMIM]
  • EPHX1:epoxide hydrolase 1, microsomal (xenobiotic) [Gene - OMIM]
  • EPRS:glutamyl-prolyl-tRNA synthetase [Gene - OMIM]
  • ESRRG:estrogen-related receptor gamma [Gene - OMIM]
  • FH:fumarate hydratase [Gene - OMIM]
  • GALNT2:polypeptide N-acetylgalactosaminyltransferase 2 [Gene - OMIM]
  • GNG4:guanine nucleotide binding protein (G protein), gamma 4 [Gene - OMIM]
  • GUK1:guanylate kinase 1 [Gene - OMIM]
  • H3F3A:H3 histone, family 3A [Gene - OMIM]
  • HLX:H2.0-like homeobox [Gene - OMIM]
  • HNRNPU:heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) [Gene - OMIM]
  • HSD11B1:hydroxysteroid (11-beta) dehydrogenase 1 [Gene - OMIM]
  • IRF6:interferon regulatory factor 6 [Gene - OMIM]
  • ITPKB:inositol-trisphosphate 3-kinase B [Gene - OMIM]
  • KCNH1:potassium voltage-gated channel, subfamily H (eag-related), member 1 [Gene - OMIM]
  • KCNK1:potassium channel, subfamily K, member 1 [Gene - OMIM]
  • KCNK2:potassium channel, subfamily K, member 2 [Gene - OMIM]
  • LAMB3:laminin, beta 3 [Gene - OMIM]
  • LBR:lamin B receptor [Gene - OMIM]
  • LGALS8:lectin, galactoside-binding, soluble, 8 [Gene - OMIM]
  • MARK1:MAP/microtubule affinity-regulating kinase 1 [Gene - OMIM]
  • MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM]
  • NEK2:NIMA-related kinase 2 [Gene - OMIM]
  • NID1:nidogen 1 [Gene - OMIM]
  • NVL:nuclear VCP-like [Gene - OMIM]
  • PPP2R5A:protein phosphatase 2, regulatory subunit B', alpha [Gene - OMIM]
  • PROX1:prospero homeobox 1 [Gene - OMIM]
  • PSEN2:presenilin 2 [Gene - OMIM]
  • PTPN14:protein tyrosine phosphatase, non-receptor type 14 [Gene - OMIM]
  • RAB4A:RAB4A, member RAS oncogene family [Gene - OMIM]
  • RGS7:regulator of G-protein signaling 7 [Gene - OMIM]
  • RYR2:ryanodine receptor 2 (cardiac) [Gene - OMIM]
  • SRP9:signal recognition particle 9kDa [Gene - OMIM]
  • TARBP1:TAR (HIV-1) RNA binding protein 1 [Gene - OMIM]
  • TBCE:tubulin folding cofactor E [Gene - OMIM]
  • TGFB2:transforming growth factor, beta 2 [Gene - OMIM]
  • LEFTY2:left-right determination factor 2 [Gene - OMIM]
  • TLR5:toll-like receptor 5 [Gene - OMIM]
  • GPR137B:G protein-coupled receptor 137B [Gene - OMIM]
  • TP53BP2:tumor protein p53 binding protein 2 [Gene - OMIM]
  • TRAF5:TNF receptor-associated factor 5 [Gene - OMIM]
  • TSNAX:translin-associated factor X [Gene - OMIM]
  • USH2A:Usher syndrome 2A (autosomal recessive, mild) [Gene - OMIM]
  • WNT9A:wingless-type MMTV integration site family, member 9A [Gene - OMIM]
  • ZNF124:zinc finger protein 124 [Gene - OMIM]
  • SLC30A1:solute carrier family 30 (zinc transporter), member 1 [Gene - OMIM]
  • HIST3H3:histone cluster 3, H3 [Gene - OMIM]
  • GNPAT:glyceronephosphate O-acyltransferase [Gene - OMIM]
  • CDC42BPA:CDC42 binding protein kinase alpha (DMPK-like) [Gene - OMIM]
  • DEGS1:delta(4)-desaturase, sphingolipid 1 [Gene - OMIM]
  • KMO:kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) [Gene - OMIM]
  • TAF1A:TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa [Gene - OMIM]
  • EXO1:exonuclease 1 [Gene - OMIM]
  • GGPS1:geranylgeranyl diphosphate synthase 1 [Gene - OMIM]
  • TMEM63A:transmembrane protein 63A [Gene]
  • TOMM20:translocase of outer mitochondrial membrane 20 homolog (yeast) [Gene - OMIM]
  • URB2:URB2 ribosome biogenesis 2 homolog (S. cerevisiae) [Gene]
  • CEP170:centrosomal protein 170kDa [Gene - OMIM]
  • LPGAT1:lysophosphatidylglycerol acyltransferase 1 [Gene - OMIM]
  • AKT3:v-akt murine thymoma viral oncogene homolog 3 [Gene - OMIM]
  • BPNT1:3'(2'), 5'-bisphosphate nucleotidase 1 [Gene - OMIM]
  • ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM]
  • LEFTY1:left-right determination factor 1 [Gene - OMIM]
  • SPHAR:S-phase response (cyclin related) [Gene]
  • CAPN9:calpain 9 [Gene - OMIM]
  • SDCCAG8:serologically defined colon cancer antigen 8 [Gene - OMIM]
  • DUSP10:dual specificity phosphatase 10 [Gene - OMIM]
  • COG2:component of oligomeric golgi complex 2 [Gene - OMIM]
  • RBM34:RNA binding motif protein 34 [Gene]
  • FBXO28:F-box protein 28 [Gene - OMIM]
  • ABCB10:ATP-binding cassette, sub-family B (MDR/TAP), member 10 [Gene - OMIM]
  • OPN3:opsin 3 [Gene - OMIM]
  • RAB3GAP2:RAB3 GTPase activating protein subunit 2 (non-catalytic) [Gene - OMIM]
  • TRIM58:tripartite motif containing 58 [Gene]
  • INTS7:integrator complex subunit 7 [Gene - OMIM]
  • AHCTF1:AT hook containing transcription factor 1 [Gene - OMIM]
  • NSL1:NSL1, MIS12 kinetochore complex component [Gene - OMIM]
  • OR1C1:olfactory receptor, family 1, subfamily C, member 1 [Gene]
  • OR2M4:olfactory receptor, family 2, subfamily M, member 4 [Gene]
  • OR2L2:olfactory receptor, family 2, subfamily L, member 2 [Gene]
  • OR2T1:olfactory receptor, family 2, subfamily T, member 1 [Gene]
  • RPS6KC1:ribosomal protein S6 kinase, 52kDa, polypeptide 1 [Gene]
  • DIEXF:digestive organ expansion factor homolog (zebrafish) [Gene]
  • TAF5L:TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa [Gene]
  • DISC2:disrupted in schizophrenia 2 (non-protein coding) [Gene - OMIM]
  • DISC1:disrupted in schizophrenia 1 [Gene - OMIM]
  • FLVCR1:feline leukemia virus subgroup C cellular receptor 1 [Gene - OMIM]
  • CNIH4:cornichon family AMPA receptor auxiliary protein 4 [Gene]
  • PYCR2:pyrroline-5-carboxylate reductase family, member 2 [Gene]
  • NENF:neudesin neurotrophic factor [Gene - OMIM]
  • G0S2:G0/G1 switch 2 [Gene - OMIM]
  • RRP15:ribosomal RNA processing 15 homolog (S. cerevisiae) [Gene - OMIM]
  • DESI2:desumoylating isopeptidase 2 [Gene - OMIM]
  • SCCPDH:saccharopine dehydrogenase (putative) [Gene]
  • TRIM17:tripartite motif containing 17 [Gene - OMIM]
  • KCTD3:potassium channel tetramerization domain containing 3 [Gene - OMIM]
  • DTL:denticleless E3 ubiquitin protein ligase homolog (Drosophila) [Gene - OMIM]
  • ARID4B:AT rich interactive domain 4B (RBP1-like) [Gene - OMIM]
  • EGLN1:egl-9 family hypoxia-inducible factor 1 [Gene - OMIM]
  • MAP10:microtubule-associated protein 10 [Gene]
  • MARC2:mitochondrial amidoxime reducing component 2 [Gene - OMIM]
  • SUSD4:sushi domain containing 4 [Gene - OMIM]
  • KIF26B:kinesin family member 26B [Gene - OMIM]
  • GPATCH2:G patch domain containing 2 [Gene]
  • HEATR1:HEAT repeat containing 1 [Gene]
  • TMEM206:transmembrane protein 206 [Gene]
  • BATF3:basic leucine zipper transcription factor, ATF-like 3 [Gene - OMIM]
  • SLC30A10:solute carrier family 30, member 10 [Gene - OMIM]
  • ZNF692:zinc finger protein 692 [Gene]
  • IARS2:isoleucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM]
  • HHAT:hedgehog acyltransferase [Gene - OMIM]
  • ENAH:enabled homolog (Drosophila) [Gene - OMIM]
  • NUP133:nucleoporin 133kDa [Gene - OMIM]
  • RCOR3:REST corepressor 3 [Gene]
  • SERTAD4:SERTA domain containing 4 [Gene]
  • ERO1LB:ERO1-like beta (S. cerevisiae) [Gene - OMIM]
  • FMN2:formin 2 [Gene - OMIM]
  • SMYD2:SET and MYND domain containing 2 [Gene - OMIM]
  • ADCK3:aarF domain containing kinase 3 [Gene - OMIM]
  • ZNF695:zinc finger protein 695 [Gene]
  • GJC2:gap junction protein, gamma 2, 47kDa [Gene - OMIM]
  • SIPA1L2:signal-induced proliferation-associated 1 like 2 [Gene - OMIM]
  • ZP4:zona pellucida glycoprotein 4 [Gene - OMIM]
  • RHOU:ras homolog family member U [Gene - OMIM]
  • TFB2M:transcription factor B2, mitochondrial [Gene - OMIM]
  • GREM2:gremlin 2, DAN family BMP antagonist [Gene - OMIM]
  • ACBD3:acyl-CoA binding domain containing 3 [Gene - OMIM]
  • SMYD3:SET and MYND domain containing 3 [Gene - OMIM]
  • MARC1:mitochondrial amidoxime reducing component 1 [Gene - OMIM]
  • ARV1:ARV1 homolog (S. cerevisiae) [Gene - OMIM]
  • AIDA:axin interactor, dorsalization associated [Gene - OMIM]
  • JMJD4:jumonji domain containing 4 [Gene]
  • C1orf35:chromosome 1 open reading frame 35 [Gene]
  • TTC13:tetratricopeptide repeat domain 13 [Gene]
  • PGBD5:piggyBac transposable element derived 5 [Gene]
  • C1orf115:chromosome 1 open reading frame 115 [Gene]
  • HHIPL2:HHIP-like 2 [Gene]
  • VASH2:vasohibin 2 [Gene - OMIM]
  • ZNF669:zinc finger protein 669 [Gene]
  • ZNF672:zinc finger protein 672 [Gene]
  • PCNXL2:pecanex-like 2 (Drosophila) [Gene]
  • WDR26:WD repeat domain 26 [Gene]
  • TRAF3IP3:TRAF3 interacting protein 3 [Gene - OMIM]
  • SH3BP5L:SH3-binding domain protein 5-like [Gene]
  • OR2L5:olfactory receptor, family 2, subfamily L, member 5 [Gene]
  • OR2G3:olfactory receptor, family 2, subfamily G, member 3 [Gene]
  • OR2G2:olfactory receptor, family 2, subfamily G, member 2 [Gene]
  • OR2C3:olfactory receptor, family 2, subfamily C, member 3 [Gene]
  • TRIM11:tripartite motif containing 11 [Gene - OMIM]
  • MIXL1:Mix paired-like homeobox [Gene - OMIM]
  • SPRTN:SprT-like N-terminal domain [Gene]
  • OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM]
  • NTPCR:nucleoside-triphosphatase, cancer-related [Gene]
  • EFCAB2:EF-hand calcium binding domain 2 [Gene]
  • KIAA1804:mixed lineage kinase 4 [Gene - OMIM]
  • ZNF496:zinc finger protein 496 [Gene - OMIM]
  • C1orf198:chromosome 1 open reading frame 198 [Gene]
  • DISP1:dispatched homolog 1 (Drosophila) [Gene - OMIM]
  • WNT3A:wingless-type MMTV integration site family, member 3A [Gene - OMIM]
  • ANGEL2:angel homolog 2 (Drosophila) [Gene]
  • HIST3H2A:histone cluster 3, H2a [Gene - OMIM]
  • ZNF670:zinc finger protein 670 [Gene]
  • NLRP3:NLR family, pyrin domain containing 3 [Gene - OMIM]
  • COX20:COX20 cytochrome C oxidase assembly factor [Gene - OMIM]
  • SNAP47:synaptosomal-associated protein, 47kDa [Gene]
  • CCSAP:centriole, cilia and spindle-associated protein [Gene]
  • LYPLAL1:lysophospholipase-like 1 [Gene]
  • OR2M5:olfactory receptor, family 2, subfamily M, member 5 [Gene]
  • OR2M3:olfactory receptor, family 2, subfamily M, member 3 [Gene]
  • OR2T12:olfactory receptor, family 2, subfamily T, member 12 [Gene]
  • OR14C36:olfactory receptor, family 14, subfamily C, member 36 [Gene]
  • OR2T34:olfactory receptor, family 2, subfamily T, member 34 [Gene]
  • OR2T10:olfactory receptor, family 2, subfamily T, member 10 [Gene]
  • OR2T4:olfactory receptor, family 2, subfamily T, member 4 [Gene]
  • OR2T11:olfactory receptor, family 2, subfamily T, member 11 [Gene]
  • DNAH14:dynein, axonemal, heavy chain 14 [Gene - OMIM]
  • OR2B11:olfactory receptor, family 2, subfamily B, member 11 [Gene]
  • WDR64:WD repeat domain 64 [Gene]
  • C1orf131:chromosome 1 open reading frame 131 [Gene]
  • SPATA17:spermatogenesis associated 17 [Gene - OMIM]
  • EDARADD:EDAR-associated death domain [Gene - OMIM]
  • MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM]
  • HIST3H2BB:histone cluster 3, H2bb [Gene - OMIM]
  • TATDN3:TatD DNase domain containing 3 [Gene]
  • C1orf74:chromosome 1 open reading frame 74 [Gene]
  • BROX:BRO1 domain and CAAX motif containing [Gene]
  • SLC35F3:solute carrier family 35, member F3 [Gene]
  • B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM]
  • GCSAML:germinal center-associated, signaling and motility-like [Gene]
  • CNIH3:cornichon family AMPA receptor auxiliary protein 3 [Gene]
  • EXOC8:exocyst complex component 8 [Gene - OMIM]
  • RNF187:ring finger protein 187 [Gene - OMIM]
  • SPATA45:spermatogenesis associated 45 [Gene]
  • FAM71A:family with sequence similarity 71, member A [Gene]
  • SDE2:SDE2 telomere maintenance homolog (S. pombe) [Gene]
  • CNST:consortin, connexin sorting protein [Gene - OMIM]
  • CCDC185:coiled-coil domain containing 185 [Gene]
  • PLD5:phospholipase D family, member 5 [Gene]
  • C1orf100:chromosome 1 open reading frame 100 [Gene]
  • IBA57:IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) [Gene - OMIM]
  • OR2T6:olfactory receptor, family 2, subfamily T, member 6 [Gene]
  • SYT14:synaptotagmin XIV [Gene - OMIM]
  • C1orf101:chromosome 1 open reading frame 101 [Gene]
  • PGBD2:piggyBac transposable element derived 2 [Gene]
  • OR2L13:olfactory receptor, family 2, subfamily L, member 13 [Gene]
  • OR14A16:olfactory receptor, family 14, subfamily A, member 16 [Gene]
  • LIN9:lin-9 DREAM MuvB core complex component [Gene - OMIM]
  • VN1R5:vomeronasal 1 receptor 5 (gene/pseudogene) [Gene]
  • ZNF678:zinc finger protein 678 [Gene]
Variant type:
copy number gain
Cytogenetic location:
1q32.2-44
Preferred name:
GRCh37/hg19 1q32.2-44(chr1:209819552-249225312)x3
HGVS:
NC_000001.10:g.(?_209819552)_(249225312_?)dup
Links:
dbVar: nsv530574
Observations:
1

Condition(s)

Name:
Macrocephaly (MGCPH)
Synonyms:
Macrocephaly/autism syndrome
Identifiers:
MedGen: C0221355; OMIM: 248000

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000079209International Standards For Cytogenomic Arrays Consortium (ISCA)classified by single submitterPathogenic
(Aug 12, 2011)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes 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

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), SCV000079209.1

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

Last Updated: Jul 18, 2014

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