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Single allele AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 2018
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:
RCV000677926.2

Allele description [Variation Report for Single allele]

Genes:
  • HACD3:3-hydroxyacyl-CoA dehydratase 3 [Gene - OMIM - HGNC]
  • AKAP13:A-kinase anchoring protein 13 [Gene - OMIM - HGNC]
  • ADAM10:ADAM metallopeptidase domain 10 [Gene - OMIM - HGNC]
  • ADAMTS17:ADAM metallopeptidase with thrombospondin type 1 motif 17 [Gene - OMIM - HGNC]
  • ADAMTS7:ADAM metallopeptidase with thrombospondin type 1 motif 7 [Gene - OMIM - HGNC]
  • ADAMTSL3:ADAMTS like 3 [Gene - OMIM - HGNC]
  • ADPGK:ADP dependent glucokinase [Gene - OMIM - HGNC]
  • AFG2B:AFG2 AAA ATPase homolog B [Gene - OMIM - HGNC]
  • AGBL1:AGBL carboxypeptidase 1 [Gene - OMIM - HGNC]
  • ARPIN-AP3S2:ARPIN-AP3S2 readthrough [Gene - HGNC]
  • ARID3B:AT-rich interaction domain 3B [Gene - OMIM - HGNC]
  • ATP8B4:ATPase phospholipid transporting 8B4 (putative) [Gene - OMIM - HGNC]
  • BNIP2:BCL2 interacting protein 2 [Gene - OMIM - HGNC]
  • BCL2L10:BCL2 like 10 [Gene - OMIM - HGNC]
  • BCL2A1:BCL2 related protein A1 [Gene - OMIM - HGNC]
  • BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
  • BTBD1:BTB domain containing 1 [Gene - OMIM - HGNC]
  • BUB1B:BUB1 mitotic checkpoint serine/threonine kinase B [Gene - OMIM - HGNC]
  • BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]
  • BMF:Bcl2 modifying factor [Gene - OMIM - HGNC]
  • CSK:C-terminal Src kinase [Gene - OMIM - HGNC]
  • C2CD4A:C2 calcium dependent domain containing 4A [Gene - OMIM - HGNC]
  • C2CD4B:C2 calcium dependent domain containing 4B [Gene - OMIM - HGNC]
  • CD276:CD276 molecule [Gene - OMIM - HGNC]
  • CDIN1:CDAN1 interacting nuclease 1 [Gene - OMIM - HGNC]
  • CLK3:CDC like kinase 3 [Gene - OMIM - HGNC]
  • CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
  • COMMD4:COMM domain containing 4 [Gene - OMIM - HGNC]
  • COPS2:COP9 signalosome subunit 2 [Gene - OMIM - HGNC]
  • CRTC3:CREB regulated transcription coactivator 3 [Gene - OMIM - HGNC]
  • CTDSPL2:CTD small phosphatase like 2 [Gene - OMIM - HGNC]
  • CELF6:CUGBP Elav-like family member 6 [Gene - OMIM - HGNC]
  • CHAC1:ChaC glutathione specific gamma-glutamylcyclotransferase 1 [Gene - OMIM - HGNC]
  • DENND4A:DENN domain containing 4A [Gene - OMIM - HGNC]
  • DET1:DET1 partner of COP1 E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • DIS3L:DIS3 like exosome 3'-5' exoribonuclease [Gene - OMIM - HGNC]
  • POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
  • DTWD1:DTW domain containing 1 [Gene - HGNC]
  • DMXL2:Dmx like 2 [Gene - OMIM - HGNC]
  • DNAJA4:DnaJ heat shock protein family (Hsp40) member A4 [Gene - HGNC]
  • DNAJC17:DnaJ heat shock protein family (Hsp40) member C17 [Gene - OMIM - HGNC]
  • EHD4:EH domain containing 4 [Gene - OMIM - HGNC]
  • EID1:EP300 interacting inhibitor of differentiation 1 [Gene - OMIM - HGNC]
  • EMC4:ER membrane protein complex subunit 4 [Gene - OMIM - HGNC]
  • EMC7:ER membrane protein complex subunit 7 [Gene - OMIM - HGNC]
  • FBXL22:F-box and leucine rich repeat protein 22 [Gene - OMIM - HGNC]
  • FBXO22:F-box protein 22 [Gene - OMIM - HGNC]
  • FANCI:FA complementation group I [Gene - OMIM - HGNC]
  • FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]
  • FRMD5:FERM domain containing 5 [Gene - OMIM - HGNC]
  • FES:FES proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
  • GNB5:G protein subunit beta 5 [Gene - OMIM - HGNC]
  • GPR176:G protein-coupled receptor 176 [Gene - OMIM - HGNC]
  • GABPB1:GA binding protein transcription factor subunit beta 1 [Gene - OMIM - HGNC]
  • GDPGP1:GDP-D-glucose phosphorylase 1 [Gene - OMIM - HGNC]
  • GRAMD2A:GRAM domain containing 2A [Gene - OMIM - HGNC]
  • GCHFR:GTP cyclohydrolase I feedback regulator [Gene - OMIM - HGNC]
  • HAUS2:HAUS augmin like complex subunit 2 [Gene - OMIM - HGNC]
  • HDDC3:HD domain containing 3 [Gene - HGNC]
  • HERC1:HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 [Gene - OMIM - HGNC]
  • IMP3:IMP U3 small nucleolar ribonucleoprotein 3 [Gene - OMIM - HGNC]
  • INO80:INO80 complex ATPase subunit [Gene - OMIM - HGNC]
  • IQGAP1:IQ motif containing GTPase activating protein 1 [Gene - OMIM - HGNC]
  • IQCH:IQ motif containing H [Gene - OMIM - HGNC]
  • ISL2:ISL LIM homeobox 2 [Gene - OMIM - HGNC]
  • KLF13:KLF transcription factor 13 [Gene - OMIM - HGNC]
  • LEO1:LEO1 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
  • LARP6:La ribonucleoprotein 6, translational regulator [Gene - OMIM - HGNC]
  • LYSMD2:LysM domain containing 2 [Gene - HGNC]
  • LYSMD4:LysM domain containing 4 [Gene - HGNC]
  • MGA:MAX dimerization protein MGA [Gene - OMIM - HGNC]
  • MINDY2:MINDY lysine 48 deubiquitinase 2 [Gene - OMIM - HGNC]
  • MEIS2:Meis homeobox 2 [Gene - OMIM - HGNC]
  • MAPDA:N6-Methyl-AMP deaminase [Gene - OMIM - HGNC]
  • NDUFAF1:NADH:ubiquinone oxidoreductase complex assembly factor 1 [Gene - OMIM - HGNC]
  • NOX5:NADPH oxidase 5 [Gene - OMIM - HGNC]
  • NEDD4:NEDD4 E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • NOP10:NOP10 ribonucleoprotein [Gene - OMIM - HGNC]
  • NUTM1:NUT midline carcinoma family member 1 [Gene - OMIM - HGNC]
  • OTUD7A:OTU deubiquitinase 7A [Gene - OMIM - HGNC]
  • OIP5:Opa interacting protein 5 [Gene - OMIM - HGNC]
  • PAK6-AS1:PAK6 antisense RNA 1 [Gene - HGNC]
  • PATL2:PAT1 homolog 2 [Gene - OMIM - HGNC]
  • PCLAF:PCNA clamp associated factor [Gene - OMIM - HGNC]
  • PIF1:PIF1 5'-to-3' DNA helicase [Gene - OMIM - HGNC]
  • PML:PML nuclear body scaffold [Gene - OMIM - HGNC]
  • RAB11A:RAB11A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB27A:RAB27A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB8B:RAB8B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAD51:RAD51 recombinase [Gene - OMIM - HGNC]
  • RORA:RAR related orphan receptor A [Gene - OMIM - HGNC]
  • RASGRP1:RAS guanyl releasing protein 1 [Gene - OMIM - HGNC]
  • RASL12:RAS like family 12 [Gene - HGNC]
  • RCCD1:RCC1 domain containing 1 [Gene - OMIM - HGNC]
  • REC114:REC114 meiotic recombination protein [Gene - OMIM - HGNC]
  • RBPMS2:RNA binding protein, mRNA processing factor 2 [Gene - OMIM - HGNC]
  • RAMAC:RNA guanine-7 methyltransferase activating subunit [Gene - OMIM - HGNC]
  • RPAP1:RNA polymerase II associated protein 1 [Gene - OMIM - HGNC]
  • POLR2M:RNA polymerase II subunit M [Gene - OMIM - HGNC]
  • RPUSD2:RNA pseudouridine synthase domain containing 2 [Gene - HGNC]
  • RNU5A-1:RNA, U5A small nuclear 1 [Gene - OMIM - HGNC]
  • RNU6-1:RNA, U6 small nuclear 1 [Gene - OMIM - HGNC]
  • RTF1:RTF1 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
  • RASGRF1:Ras protein specific guanine nucleotide releasing factor 1 [Gene - OMIM - HGNC]
  • RHCG:Rh family C glycoprotein [Gene - OMIM - HGNC]
  • ARHGAP11A:Rho GTPase activating protein 11A [Gene - OMIM - HGNC]
  • SCAPER:S-phase cyclin A associated protein in the ER [Gene - OMIM - HGNC]
  • SLTM:SAFB like transcription modulator [Gene - HGNC]
  • SEC11A:SEC11 homolog A, signal peptidase complex subunit [Gene - OMIM - HGNC]
  • SECISBP2L:SECIS binding protein 2 like [Gene - OMIM - HGNC]
  • SH2D7:SH2 domain containing 7 [Gene - HGNC]
  • SH3GL3:SH3 domain containing GRB2 like 3, endophilin A3 [Gene - OMIM - HGNC]
  • SHC4:SHC adaptor protein 4 [Gene - OMIM - HGNC]
  • SIN3A:SIN3 transcription regulator family member A [Gene - OMIM - HGNC]
  • SKOR1:SKI family transcriptional corepressor 1 [Gene - OMIM - HGNC]
  • SKIC8:SKI8 subunit of superkiller complex [Gene - OMIM - HGNC]
  • SLC51B:SLC51 subunit beta [Gene - OMIM - HGNC]
  • SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]
  • SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]
  • SPG11:SPG11 vesicle trafficking associated, spatacsin [Gene - OMIM - HGNC]
  • SPG21:SPG21 abhydrolase domain containing, maspardin [Gene - OMIM - HGNC]
  • ST20-MTHFS:ST20-MTHFS readthrough [Gene - HGNC]
  • ST8SIA2:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 [Gene - OMIM - HGNC]
  • SENP8:SUMO peptidase family member, NEDD8 specific [Gene - OMIM - HGNC]
  • SHF:Src homology 2 domain containing F [Gene - OMIM - HGNC]
  • STARD5:StAR related lipid transfer domain containing 5 [Gene - OMIM - HGNC]
  • STARD9:StAR related lipid transfer domain containing 9 [Gene - OMIM - HGNC]
  • TBC1D21:TBC1 domain family member 21 [Gene - OMIM - HGNC]
  • TBC1D2B:TBC1 domain family member 2B [Gene - OMIM - HGNC]
  • THAP10:THAP domain containing 10 [Gene - OMIM - HGNC]
  • TIPIN:TIMELESS interacting protein [Gene - OMIM - HGNC]
  • TLE3:TLE family member 3, transcriptional corepressor [Gene - OMIM - HGNC]
  • TM2D3:TM2 domain containing 3 [Gene - OMIM - HGNC]
  • TNFAIP8L3:TNF alpha induced protein 8 like 3 [Gene - OMIM - HGNC]
  • TICRR:TOPBP1 interacting checkpoint and replication regulator [Gene - OMIM - HGNC]
  • TYRO3:TYRO3 protein tyrosine kinase [Gene - OMIM - HGNC]
  • VPS18:VPS18 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • VPS33B:VPS33B late endosome and lysosome associated [Gene - OMIM - HGNC]
  • VPS39:VPS39 subunit of HOPS complex [Gene - OMIM - HGNC]
  • WHAMM:WASP homolog associated with actin, golgi membranes and microtubules [Gene - OMIM - HGNC]
  • WDR72:WD repeat domain 72 [Gene - OMIM - HGNC]
  • WDR73:WD repeat domain 73 [Gene - OMIM - HGNC]
  • WDR76:WD repeat domain 76 [Gene - OMIM - HGNC]
  • WDR93:WD repeat domain 93 [Gene - OMIM - HGNC]
  • ABHD17C:abhydrolase domain containing 17C, depalmitoylase [Gene - OMIM - HGNC]
  • ABHD2:abhydrolase domain containing 2, acylglycerol lipase [Gene - OMIM - HGNC]
  • ANP32A:acidic nuclear phosphoprotein 32 family member A [Gene - OMIM - HGNC]
  • ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]
  • ARPIN:actin related protein 2/3 complex inhibitor [Gene - OMIM - HGNC]
  • ACSBG1:acyl-CoA synthetase bubblegum family member 1 [Gene - OMIM - HGNC]
  • AP3B2:adaptor related protein complex 3 subunit beta 2 [Gene - OMIM - HGNC]
  • AP3S2:adaptor related protein complex 3 subunit sigma 2 [Gene - OMIM - HGNC]
  • AP4E1:adaptor related protein complex 4 subunit epsilon 1 [Gene - OMIM - HGNC]
  • ACAN:aggrecan [Gene - OMIM - HGNC]
  • ANPEP:alanyl aminopeptidase, membrane [Gene - OMIM - HGNC]
  • ALDH1A2:aldehyde dehydrogenase 1 family member A2 [Gene - OMIM - HGNC]
  • ALDH1A3:aldehyde dehydrogenase 1 family member A3 [Gene - OMIM - HGNC]
  • AAGAB:alpha and gamma adaptin binding protein [Gene - OMIM - HGNC]
  • ALPK3:alpha kinase 3 [Gene - OMIM - HGNC]
  • ASB7:ankyrin repeat and SOCS box containing 7 [Gene - OMIM - HGNC]
  • ANKDD1A:ankyrin repeat and death domain containing 1A [Gene - HGNC]
  • ANKRD34C:ankyrin repeat domain 34C [Gene - HGNC]
  • ANKRD63:ankyrin repeat domain 63 [Gene - HGNC]
  • ANXA2:annexin A2 [Gene - OMIM - HGNC]
  • APH1B:aph-1 homolog B, gamma-secretase subunit [Gene - OMIM - HGNC]
  • AVEN:apoptosis and caspase activation inhibitor [Gene - OMIM - HGNC]
  • AEN:apoptosis enhancing nuclease [Gene - OMIM - HGNC]
  • AQP9:aquaporin 9 [Gene - OMIM - HGNC]
  • AQR:aquarius intron-binding spliceosomal factor [Gene - OMIM - HGNC]
  • ARIH1:ariadne RBR E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • ARRDC4:arrestin domain containing 4 [Gene - OMIM - HGNC]
  • ARNT2:aryl hydrocarbon receptor nuclear translocator 2 [Gene - OMIM - HGNC]
  • ATOSA:atos homolog A [Gene - OMIM - HGNC]
  • BNC1:basonuclin zinc finger protein 1 [Gene - OMIM - HGNC]
  • B2M:beta-2-microglobulin [Gene - OMIM - HGNC]
  • BLOC1S6:biogenesis of lysosomal organelles complex 1 subunit 6 [Gene - OMIM - HGNC]
  • BAHD1:bromo adjacent homology domain containing 1 [Gene - OMIM - HGNC]
  • ARPP19:cAMP regulated phosphoprotein 19 [Gene - OMIM - HGNC]
  • CHP1:calcineurin like EF-hand protein 1 [Gene - OMIM - HGNC]
  • CIB1:calcium and integrin binding 1 [Gene - OMIM - HGNC]
  • CIB2:calcium and integrin binding family member 2 [Gene - OMIM - HGNC]
  • CALML4:calmodulin like 4 [Gene - OMIM - HGNC]
  • CAPN3:calpain 3 [Gene - OMIM - HGNC]
  • CT62:cancer/testis associated 62 [Gene - HGNC]
  • CHST14:carbohydrate sulfotransferase 14 [Gene - OMIM - HGNC]
  • CA12:carbonic anhydrase 12 [Gene - OMIM - HGNC]
  • CILP:cartilage intermediate layer protein [Gene - OMIM - HGNC]
  • CSNK1G1:casein kinase 1 gamma 1 [Gene - OMIM - HGNC]
  • CLPX:caseinolytic mitochondrial matrix peptidase chaperone subunit X [Gene - OMIM - HGNC]
  • CTSH:cathepsin H [Gene - OMIM - HGNC]
  • CATSPER2:cation channel sperm associated 2 [Gene - OMIM - HGNC]
  • CCPG1:cell cycle progression 1 [Gene - OMIM - HGNC]
  • CEMIP:cell migration inducing hyaluronidase 1 [Gene - OMIM - HGNC]
  • CRABP1:cellular retinoic acid binding protein 1 [Gene - OMIM - HGNC]
  • CEP152:centrosomal protein 152 [Gene - OMIM - HGNC]
  • CERS3:ceramide synthase 3 [Gene - OMIM - HGNC]
  • CHRM5:cholinergic receptor muscarinic 5 [Gene - OMIM - HGNC]
  • CHRNA3:cholinergic receptor nicotinic alpha 3 subunit [Gene - OMIM - HGNC]
  • CHRNA5:cholinergic receptor nicotinic alpha 5 subunit [Gene - OMIM - HGNC]
  • CHRNA7:cholinergic receptor nicotinic alpha 7 subunit [Gene - OMIM - HGNC]
  • CHRNB4:cholinergic receptor nicotinic beta 4 subunit [Gene - OMIM - HGNC]
  • CSPG4:chondroitin sulfate proteoglycan 4 [Gene - OMIM - HGNC]
  • CHSY1:chondroitin sulfate synthase 1 [Gene - OMIM - HGNC]
  • CHD2:chromodomain helicase DNA binding protein 2 [Gene - OMIM - HGNC]
  • C15orf39:chromosome 15 open reading frame 39 [Gene - HGNC]
  • C15orf40:chromosome 15 open reading frame 40 [Gene - HGNC]
  • C15orf48:chromosome 15 open reading frame 48 [Gene - OMIM - HGNC]
  • C15orf61:chromosome 15 open reading frame 61 [Gene - HGNC]
  • C15orf62:chromosome 15 open reading frame 62 [Gene - HGNC]
  • C15orf32:chromosome 15 putative open reading frame 32 [Gene - HGNC]
  • CFAP161:cilia and flagella associated protein 161 [Gene - HGNC]
  • CIMAP1C:ciliary microtubule associated protein 1C [Gene - HGNC]
  • CGNL1:cingulin like 1 [Gene - OMIM - HGNC]
  • CDAN1:codanin 1 [Gene - OMIM - HGNC]
  • CCDC32:coiled-coil domain containing 32 [Gene - OMIM - HGNC]
  • CCDC33:coiled-coil domain containing 33 [Gene - OMIM - HGNC]
  • CCDC9B:coiled-coil domain containing 9B [Gene - HGNC]
  • CPLX3:complexin 3 [Gene - OMIM - HGNC]
  • CORO2B:coronin 2B [Gene - OMIM - HGNC]
  • CTXN2:cortexin 2 [Gene - HGNC]
  • CKMT1A:creatine kinase, mitochondrial 1A [Gene - OMIM - HGNC]
  • CKMT1B:creatine kinase, mitochondrial 1B [Gene - OMIM - HGNC]
  • CCNB2:cyclin B2 [Gene - OMIM - HGNC]
  • CCNDBP1:cyclin D1 binding protein 1 [Gene - OMIM - HGNC]
  • CYP1A1:cytochrome P450 family 1 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP1A2:cytochrome P450 family 1 subfamily A member 2 [Gene - OMIM - HGNC]
  • CYP11A1:cytochrome P450 family 11 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP19A1:cytochrome P450 family 19 subfamily A member 1 [Gene - OMIM - HGNC]
  • COX5A:cytochrome c oxidase subunit 5A [Gene - OMIM - HGNC]
  • CPEB1:cytoplasmic polyadenylation element binding protein 1 [Gene - OMIM - HGNC]
  • CIAO2A:cytosolic iron-sulfur assembly component 2A [Gene - OMIM - HGNC]
  • DAPK2:death associated protein kinase 2 [Gene - OMIM - HGNC]
  • DLL4:delta like canonical Notch ligand 4 [Gene - OMIM - HGNC]
  • DUT:deoxyuridine triphosphatase [Gene - OMIM - HGNC]
  • DPP8:dipeptidyl peptidase 8 [Gene - OMIM - HGNC]
  • PPIP5K1:diphosphoinositol pentakisphosphate kinase 1 [Gene - OMIM - HGNC]
  • DPH6:diphthamine biosynthesis 6 [Gene - OMIM - HGNC]
  • DISP2:dispatched RND transporter family member 2 [Gene - OMIM - HGNC]
  • DUOX1:dual oxidase 1 [Gene - OMIM - HGNC]
  • DUOX2:dual oxidase 2 [Gene - OMIM - HGNC]
  • DUOXA1:dual oxidase maturation factor 1 [Gene - OMIM - HGNC]
  • DUOXA2:dual oxidase maturation factor 2 [Gene - OMIM - HGNC]
  • DNAAF4:dynein axonemal assembly factor 4 [Gene - OMIM - HGNC]
  • ETFA:electron transfer flavoprotein subunit alpha [Gene - OMIM - HGNC]
  • ELL3:elongation factor for RNA polymerase II 3 [Gene - OMIM - HGNC]
  • EFL1:elongation factor like GTPase 1 [Gene - OMIM - HGNC]
  • EDC3:enhancer of mRNA decapping 3 [Gene - OMIM - HGNC]
  • EPB42:erythrocyte membrane protein band 4.2 [Gene - OMIM - HGNC]
  • EIF2AK4:eukaryotic translation initiation factor 2 alpha kinase 4 [Gene - OMIM - HGNC]
  • EIF3J:eukaryotic translation initiation factor 3 subunit J [Gene - OMIM - HGNC]
  • EXD1:exonuclease 3'-5' domain containing 1 [Gene - HGNC]
  • FAM174B:family with sequence similarity 174 member B [Gene - HGNC]
  • FAM219B:family with sequence similarity 219 member B [Gene - HGNC]
  • FAM227B:family with sequence similarity 227 member B [Gene - HGNC]
  • FAM81A:family with sequence similarity 81 member A [Gene - HGNC]
  • FAM98B:family with sequence similarity 98 member B [Gene - OMIM - HGNC]
  • FEM1B:fem-1 homolog B [Gene - OMIM - HGNC]
  • FBN1:fibrillin 1 [Gene - OMIM - HGNC]
  • FGF7:fibroblast growth factor 7 [Gene - OMIM - HGNC]
  • FSD2:fibronectin type III and SPRY domain containing 2 [Gene - HGNC]
  • FSIP1:fibrous sheath interacting protein 1 [Gene - OMIM - HGNC]
  • FOXB1:forkhead box B1 [Gene - OMIM - HGNC]
  • FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
  • FURIN:furin, paired basic amino acid cleaving enzyme [Gene - OMIM - HGNC]
  • GALK2:galactokinase 2 [Gene - OMIM - HGNC]
  • GJD2:gap junction protein delta 2 [Gene - OMIM - HGNC]
  • GTF2A2:general transcription factor IIA subunit 2 [Gene - OMIM - HGNC]
  • GLDN:gliomedin [Gene - OMIM - HGNC]
  • GCNT3:glucosaminyl (N-acetyl) transferase 3, mucin type [Gene - OMIM - HGNC]
  • GANC:glucosidase alpha, neutral C [Gene - OMIM - HGNC]
  • GLCE:glucuronic acid epimerase [Gene - OMIM - HGNC]
  • GATM:glycine amidinotransferase [Gene - OMIM - HGNC]
  • GOLM2:golgi membrane protein 2 [Gene - HGNC]
  • GOLGA6A:golgin A6 family member A [Gene - OMIM - HGNC]
  • GOLGA6B:golgin A6 family member B [Gene - HGNC]
  • GOLGA6C:golgin A6 family member C [Gene - HGNC]
  • GOLGA6D:golgin A6 family member D [Gene - HGNC]
  • GOLGA8A:golgin A8 family member A [Gene - OMIM - HGNC]
  • GOLGA8B:golgin A8 family member B [Gene - OMIM - HGNC]
  • GOLGA8N:golgin A8 family member N [Gene - HGNC]
  • GOLGA8O:golgin A8 family member O [Gene - HGNC]
  • GREM1:gremlin 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
  • HMG20A:high mobility group 20A [Gene - OMIM - HGNC]
  • HDC:histidine decarboxylase [Gene - OMIM - HGNC]
  • HOMER2:homer scaffold protein 2 [Gene - OMIM - HGNC]
  • HYPK:huntingtin interacting protein K [Gene - OMIM - HGNC]
  • HAPLN3:hyaluronan and proteoglycan link protein 3 [Gene - HGNC]
  • HYKK:hydroxylysine kinase [Gene - OMIM - HGNC]
  • HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]
  • IGDCC3:immunoglobulin superfamily DCC subclass member 3 [Gene - OMIM - HGNC]
  • IGDCC4:immunoglobulin superfamily DCC subclass member 4 [Gene - OMIM - HGNC]
  • ISLR2:immunoglobulin superfamily containing leucine rich repeat 2 [Gene - OMIM - HGNC]
  • ISLR:immunoglobulin superfamily containing leucine rich repeat [Gene - OMIM - HGNC]
  • INSYN1:inhibitory synaptic factor 1 [Gene - OMIM - HGNC]
  • ITPKA:inositol-trisphosphate 3-kinase A [Gene - OMIM - HGNC]
  • IGF1R:insulin like growth factor 1 receptor [Gene - OMIM - HGNC]
  • INTS14:integrator complex subunit 14 [Gene - OMIM - HGNC]
  • ITGA11:integrin subunit alpha 11 [Gene - OMIM - HGNC]
  • ICE2:interactor of little elongation complex ELL subunit 2 [Gene - OMIM - HGNC]
  • ISG20:interferon stimulated exonuclease gene 20 [Gene - OMIM - HGNC]
  • IL16:interleukin 16 [Gene - OMIM - HGNC]
  • IREB2:iron responsive element binding protein 2 [Gene - OMIM - HGNC]
  • IDH3A:isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha [Gene - OMIM - HGNC]
  • IDH2:isocitrate dehydrogenase (NADP(+)) 2 [Gene - OMIM - HGNC]
  • IVD:isovaleryl-CoA dehydrogenase [Gene - OMIM - HGNC]
  • JMJD7:jumonji domain containing 7 [Gene - HGNC]
  • KATNBL1:katanin regulatory subunit B1 like 1 [Gene - OMIM - HGNC]
  • KLHL25:kelch like family member 25 [Gene - OMIM - HGNC]
  • KBTBD13:kelch repeat and BTB domain containing 13 [Gene - OMIM - HGNC]
  • KIF23:kinesin family member 23 [Gene - OMIM - HGNC]
  • KIF7:kinesin family member 7 [Gene - OMIM - HGNC]
  • KNSTRN:kinetochore localized astrin (SPAG5) binding protein [Gene - OMIM - HGNC]
  • KNL1:kinetochore scaffold 1 [Gene - OMIM - HGNC]
  • LACTB:lactamase beta [Gene - OMIM - HGNC]
  • LCTL:lactase like [Gene - OMIM - HGNC]
  • LDHAL6B:lactate dehydrogenase A like 6B [Gene - HGNC]
  • LMAN1L:lectin, mannose binding 1 like [Gene - OMIM - HGNC]
  • LCMT2:leucine carboxyl methyltransferase 2 [Gene - OMIM - HGNC]
  • LINGO1:leucine rich repeat and Ig domain containing 1 [Gene - OMIM - HGNC]
  • LRRC28:leucine rich repeat containing 28 [Gene - HGNC]
  • LRRC49:leucine rich repeat containing 49 [Gene - OMIM - HGNC]
  • LRRC57:leucine rich repeat containing 57 [Gene - HGNC]
  • LRRK1:leucine rich repeat kinase 1 [Gene - OMIM - HGNC]
  • LTK:leukocyte receptor tyrosine kinase [Gene - OMIM - HGNC]
  • LINS1:lines homolog 1 [Gene - OMIM - HGNC]
  • LIPC:lipase C, hepatic type [Gene - OMIM - HGNC]
  • LINC02694:long intergenic non-protein coding RNA 2694 [Gene - HGNC]
  • LINC02915:long intergenic non-protein coding RNA 2915 [Gene - HGNC]
  • LINC00928:long intergenic non-protein coding RNA 928 [Gene - HGNC]
  • LPCAT4:lysophosphatidylcholine acyltransferase 4 [Gene - OMIM - HGNC]
  • LOXL1:lysyl oxidase like 1 [Gene - OMIM - HGNC]
  • MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]
  • MAN2A2:mannosidase alpha class 2A member 2 [Gene - OMIM - HGNC]
  • MAN2C1:mannosidase alpha class 2C member 1 [Gene - OMIM - HGNC]
  • MNS1:meiosis specific nuclear structural 1 [Gene - OMIM - HGNC]
  • MINAR1:membrane integral NOTCH2 associated receptor 1 [Gene - OMIM - HGNC]
  • MESD:mesoderm development LRP chaperone [Gene - OMIM - HGNC]
  • MESP1:mesoderm posterior bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • MESP2:mesoderm posterior bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • MTHFS:methenyltetrahydrofolate synthetase [Gene - OMIM - HGNC]
  • MEX3B:mex-3 RNA binding family member B [Gene - OMIM - HGNC]
  • MIR184:microRNA 184 [Gene - OMIM - HGNC]
  • MIR211:microRNA 211 [Gene - OMIM - HGNC]
  • MIR9-3:microRNA 9-3 [Gene - OMIM - HGNC]
  • MFAP1:microfibril associated protein 1 [Gene - OMIM - HGNC]
  • MAP1A:microtubule associated protein 1A [Gene - OMIM - HGNC]
  • MFGE8:milk fat globule EGF and factor V/VIII domain containing [Gene - OMIM - HGNC]
  • MTFMT:mitochondrial methionyl-tRNA formyltransferase [Gene - OMIM - HGNC]
  • MRPL46:mitochondrial ribosomal protein L46 [Gene - OMIM - HGNC]
  • MRPS11:mitochondrial ribosomal protein S11 [Gene - OMIM - HGNC]
  • MAPK6:mitogen-activated protein kinase 6 [Gene - OMIM - HGNC]
  • MAPKBP1:mitogen-activated protein kinase binding protein 1 [Gene - OMIM - HGNC]
  • MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]
  • MAP2K5:mitogen-activated protein kinase kinase 5 [Gene - OMIM - HGNC]
  • MORF4L1:mortality factor 4 like 1 [Gene - OMIM - HGNC]
  • MCTP2:multiple C2 and transmembrane domain containing 2 [Gene - OMIM - HGNC]
  • MEGF11:multiple EGF like domains 11 [Gene - OMIM - HGNC]
  • MYEF2:myelin expression factor 2 [Gene - OMIM - HGNC]
  • MYZAP:myocardial zonula adherens protein [Gene - OMIM - HGNC]
  • MEF2A:myocyte enhancer factor 2A [Gene - OMIM - HGNC]
  • MYO1E:myosin IE [Gene - OMIM - HGNC]
  • MYO9A:myosin IXA [Gene - OMIM - HGNC]
  • MYO5A:myosin VA [Gene - OMIM - HGNC]
  • MYO5C:myosin VC [Gene - OMIM - HGNC]
  • MTMR10:myotubularin related protein 10 [Gene - HGNC]
  • NEIL1:nei like DNA glycosylase 1 [Gene - OMIM - HGNC]
  • NEO1:neogenin 1 [Gene - OMIM - HGNC]
  • NGRN:neugrin, neurite outgrowth associated [Gene - OMIM - HGNC]
  • NRG4:neuregulin 4 [Gene - OMIM - HGNC]
  • NMB:neuromedin B [Gene - OMIM - HGNC]
  • NPTN:neuroplastin [Gene - OMIM - HGNC]
  • NTRK3:neurotrophic receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • NR2E3:nuclear receptor subfamily 2 group E member 3 [Gene - OMIM - HGNC]
  • NR2F2:nuclear receptor subfamily 2 group F member 2 [Gene - OMIM - HGNC]
  • NUSAP1:nucleolar and spindle associated protein 1 [Gene - OMIM - HGNC]
  • OR4F6:olfactory receptor family 4 subfamily F member 6 [Gene - HGNC]
  • ONECUT1:one cut homeobox 1 [Gene - OMIM - HGNC]
  • OAZ2:ornithine decarboxylase antizyme 2 [Gene - OMIM - HGNC]
  • PAK6:p21 (RAC1) activated kinase 6 [Gene - OMIM - HGNC]
  • PPIB:peptidylprolyl isomerase B [Gene - OMIM - HGNC]
  • PLIN1:perilipin 1 [Gene - OMIM - HGNC]
  • PEX11A:peroxisomal biogenesis factor 11 alpha [Gene - OMIM - HGNC]
  • PIGB:phosphatidylinositol glycan anchor biosynthesis class B [Gene - OMIM - HGNC]
  • PDE8A:phosphodiesterase 8A [Gene - OMIM - HGNC]
  • PLA2G4B:phospholipase A2 group IVB [Gene - OMIM - HGNC]
  • PLA2G4D:phospholipase A2 group IVD [Gene - OMIM - HGNC]
  • PLA2G4E:phospholipase A2 group IVE [Gene - OMIM - HGNC]
  • PLA2G4F:phospholipase A2 group IVF [Gene - HGNC]
  • PLCB2:phospholipase C beta 2 [Gene - OMIM - HGNC]
  • PPCDC:phosphopantothenoylcysteine decarboxylase [Gene - OMIM - HGNC]
  • PIERCE2:piercer of microtubule wall 2 [Gene - OMIM - HGNC]
  • PGBD4:piggyBac transposable element derived 4 [Gene - HGNC]
  • PLEKHO2:pleckstrin homology domain containing O2 [Gene - HGNC]
  • PARP16:poly(ADP-ribose) polymerase family member 16 [Gene - OMIM - HGNC]
  • PARP6:poly(ADP-ribose) polymerase family member 6 [Gene - OMIM - HGNC]
  • PAQR5:progestin and adipoQ receptor family member 5 [Gene - OMIM - HGNC]
  • PDCD7:programmed cell death 7 [Gene - OMIM - HGNC]
  • PHGR1:proline, histidine and glycine rich 1 [Gene - HGNC]
  • PSTPIP1:proline-serine-threonine phosphatase interacting protein 1 [Gene - OMIM - HGNC]
  • PCSK6:proprotein convertase subtilisin/kexin type 6 [Gene - OMIM - HGNC]
  • PSMA4:proteasome 20S subunit alpha 4 [Gene - OMIM - HGNC]
  • PDIA3:protein disulfide isomerase family A member 3 [Gene - OMIM - HGNC]
  • PIAS1:protein inhibitor of activated STAT 1 [Gene - OMIM - HGNC]
  • PPP1R14D:protein phosphatase 1 regulatory inhibitor subunit 14D [Gene - OMIM - HGNC]
  • PRC1:protein regulator of cytokinesis 1 [Gene - OMIM - HGNC]
  • PTPN9:protein tyrosine phosphatase non-receptor type 9 [Gene - OMIM - HGNC]
  • PRTG:protogenin [Gene - OMIM - HGNC]
  • PEAK1:pseudopodium enriched atypical kinase 1 [Gene - OMIM - HGNC]
  • PYGO1:pygopus family PHD finger 1 [Gene - OMIM - HGNC]
  • PGPEP1L:pyroglutamyl-peptidase I like [Gene - HGNC]
  • PKM:pyruvate kinase M1/2 [Gene - OMIM - HGNC]
  • RHOV:ras homolog family member V [Gene - OMIM - HGNC]
  • RMDN3:regulator of microtubule dynamics 3 [Gene - OMIM - HGNC]
  • RFX7:regulatory factor X7 [Gene - OMIM - HGNC]
  • RGMA:repulsive guidance molecule BMP co-receptor a [Gene - OMIM - HGNC]
  • RCN2:reticulocalbin 2 [Gene - OMIM - HGNC]
  • RLBP1:retinaldehyde binding protein 1 [Gene - OMIM - HGNC]
  • RPP25:ribonuclease P and MRP subunit p25 [Gene - OMIM - HGNC]
  • RSL24D1:ribosomal L24 domain containing 1 [Gene - OMIM - HGNC]
  • RPL4:ribosomal protein L4 [Gene - OMIM - HGNC]
  • RPS17:ribosomal protein S17 [Gene - OMIM - HGNC]
  • RPS27L:ribosomal protein S27 like [Gene - OMIM - HGNC]
  • RPLP1:ribosomal protein lateral stalk subunit P1 [Gene - OMIM - HGNC]
  • RNF111:ring finger protein 111 [Gene - OMIM - HGNC]
  • RYR3:ryanodine receptor 3 [Gene - OMIM - HGNC]
  • SCG3:secretogranin III [Gene - OMIM - HGNC]
  • SCG5:secretogranin V [Gene - OMIM - HGNC]
  • SCAMP2:secretory carrier membrane protein 2 [Gene - OMIM - HGNC]
  • SCAMP5:secretory carrier membrane protein 5 [Gene - OMIM - HGNC]
  • SELENOS:selenoprotein S [Gene - OMIM - HGNC]
  • SEMA4B:semaphorin 4B [Gene - OMIM - HGNC]
  • SEMA6D:semaphorin 6D [Gene - OMIM - HGNC]
  • SEMA7A:semaphorin 7A (JohnMiltonHagen blood group) [Gene - OMIM - HGNC]
  • SERINC4:serine incorporator 4 [Gene - OMIM - HGNC]
  • SPINT1:serine peptidase inhibitor, Kunitz type 1 [Gene - OMIM - HGNC]
  • SPPL2A:signal peptide peptidase like 2A [Gene - OMIM - HGNC]
  • SRP14:signal recognition particle 14 [Gene - OMIM - HGNC]
  • STRA6:signaling receptor and transporter of retinol STRA6 [Gene - OMIM - HGNC]
  • SCARNA15:small Cajal body-specific RNA 15 [Gene - OMIM - HGNC]
  • SERF2:small EDRK-rich factor 2 [Gene - OMIM - HGNC]
  • SNAPC5:small nuclear RNA activating complex polypeptide 5 [Gene - OMIM - HGNC]
  • SNRPA1:small nuclear ribonucleoprotein polypeptide A' [Gene - OMIM - HGNC]
  • SNUPN:snurportin 1 [Gene - OMIM - HGNC]
  • SLC12A1:solute carrier family 12 member 1 [Gene - OMIM - HGNC]
  • SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]
  • SLC24A1:solute carrier family 24 member 1 [Gene - OMIM - HGNC]
  • SLC24A5:solute carrier family 24 member 5 [Gene - OMIM - HGNC]
  • SLC27A2:solute carrier family 27 member 2 [Gene - OMIM - HGNC]
  • SLC28A1:solute carrier family 28 member 1 [Gene - OMIM - HGNC]
  • SLC28A2:solute carrier family 28 member 2 [Gene - OMIM - HGNC]
  • SLC30A4:solute carrier family 30 member 4 [Gene - OMIM - HGNC]
  • SLCO3A1:solute carrier organic anion transporter family member 3A1 [Gene - OMIM - HGNC]
  • SORD:sorbitol dehydrogenase [Gene - OMIM - HGNC]
  • SNX1:sorting nexin 1 [Gene - OMIM - HGNC]
  • SNX22:sorting nexin 22 [Gene - HGNC]
  • SNX33:sorting nexin 33 [Gene - OMIM - HGNC]
  • SPTBN5:spectrin beta, non-erythrocytic 5 [Gene - OMIM - HGNC]
  • SPESP1:sperm equatorial segment protein 1 [Gene - OMIM - HGNC]
  • SPATA8:spermatogenesis associated 8 [Gene - OMIM - HGNC]
  • SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
  • SAXO2:stabilizer of axonemal microtubules 2 [Gene - HGNC]
  • STRC:stereocilin [Gene - OMIM - HGNC]
  • STOML1:stomatin like 1 [Gene - OMIM - HGNC]
  • SQOR:sulfide quinone oxidoreductase [Gene - OMIM - HGNC]
  • ST20:suppressor of tumorigenicity 20 [Gene - HGNC]
  • SV2B:synaptic vesicle glycoprotein 2B [Gene - OMIM - HGNC]
  • SNAP23:synaptosome associated protein 23 [Gene - OMIM - HGNC]
  • SYNM:synemin [Gene - OMIM - HGNC]
  • TLN2:talin 2 [Gene - OMIM - HGNC]
  • TLNRD1:talin rod domain containing 1 [Gene - OMIM - HGNC]
  • TTBK2:tau tubulin kinase 2 [Gene - OMIM - HGNC]
  • TERB2:telomere repeat binding bouquet formation protein 2 [Gene - OMIM - HGNC]
  • TEX9:testis expressed 9 [Gene - HGNC]
  • TSPAN3:tetraspanin 3 [Gene - OMIM - HGNC]
  • TTC23:tetratricopeptide repeat domain 23 [Gene - HGNC]
  • TARS3:threonyl-tRNA synthetase 3 [Gene - HGNC]
  • THBS1:thrombospondin 1 [Gene - OMIM - HGNC]
  • THSD4:thrombospondin type 1 domain containing 4 [Gene - OMIM - HGNC]
  • TRIP4:thyroid hormone receptor interactor 4 [Gene - OMIM - HGNC]
  • TCF12:transcription factor 12 [Gene - OMIM - HGNC]
  • TGM5:transglutaminase 5 [Gene - OMIM - HGNC]
  • TGM7:transglutaminase 7 [Gene - OMIM - HGNC]
  • TRPM1:transient receptor potential cation channel subfamily M member 1 [Gene - OMIM - HGNC]
  • TRPM7:transient receptor potential cation channel subfamily M member 7 [Gene - OMIM - HGNC]
  • TM6SF1:transmembrane 6 superfamily member 1 [Gene - OMIM - HGNC]
  • TMCO5A:transmembrane and coiled-coil domains 5A [Gene - HGNC]
  • TMC3:transmembrane channel like 3 [Gene - OMIM - HGNC]
  • TMED3:transmembrane p24 trafficking protein 3 [Gene - OMIM - HGNC]
  • TMEM202:transmembrane protein 202 [Gene - HGNC]
  • TMEM266:transmembrane protein 266 [Gene - OMIM - HGNC]
  • TMEM62:transmembrane protein 62 [Gene - HGNC]
  • TMEM87A:transmembrane protein 87A [Gene - HGNC]
  • TRIM69:tripartite motif containing 69 [Gene - OMIM - HGNC]
  • TMOD2:tropomodulin 2 [Gene - OMIM - HGNC]
  • TMOD3:tropomodulin 3 [Gene - OMIM - HGNC]
  • TPM1:tropomyosin 1 [Gene - OMIM - HGNC]
  • TUBGCP4:tubulin gamma complex component 4 [Gene - OMIM - HGNC]
  • TP53BP1:tumor protein p53 binding protein 1 [Gene - OMIM - HGNC]
  • UBAP1L:ubiquitin associated protein 1 like [Gene - HGNC]
  • UBE2Q2:ubiquitin conjugating enzyme E2 Q2 [Gene - OMIM - HGNC]
  • UBL7:ubiquitin like 7 [Gene - OMIM - HGNC]
  • UBR1:ubiquitin protein ligase E3 component n-recognin 1 [Gene - OMIM - HGNC]
  • USP3:ubiquitin specific peptidase 3 [Gene - OMIM - HGNC]
  • USP50:ubiquitin specific peptidase 50 [Gene - OMIM - HGNC]
  • USP8:ubiquitin specific peptidase 8 [Gene - OMIM - HGNC]
  • UNC13C:unc-13 homolog C [Gene - OMIM - HGNC]
  • UNC45A:unc-45 myosin chaperone A [Gene - OMIM - HGNC]
  • ULK3:unc-51 like kinase 3 [Gene - OMIM - HGNC]
  • UACA:uveal autoantigen with coiled-coil domains and ankyrin repeats [Gene - OMIM - HGNC]
  • VPS13C:vacuolar protein sorting 13 homolog C [Gene - OMIM - HGNC]
  • ZFAND6:zinc finger AN1-type containing 6 [Gene - OMIM - HGNC]
  • ZFYVE19:zinc finger FYVE-type containing 19 [Gene - OMIM - HGNC]
  • ZSCAN29:zinc finger and SCAN domain containing 29 [Gene - HGNC]
  • ZSCAN2:zinc finger and SCAN domain containing 2 [Gene - HGNC]
  • ZNF106:zinc finger protein 106 [Gene - OMIM - HGNC]
  • ZNF280D:zinc finger protein 280D [Gene - HGNC]
  • ZNF592:zinc finger protein 592 [Gene - OMIM - HGNC]
  • ZNF609:zinc finger protein 609 [Gene - OMIM - HGNC]
  • ZNF710:zinc finger protein 710 [Gene - HGNC]
  • ZNF770:zinc finger protein 770 [Gene - HGNC]
  • ZNF774:zinc finger protein 774 [Gene - HGNC]
  • ZWILCH:zwilch kinetochore protein [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q13.2-26.3
Genomic location:
Chr15: 31115047 - 102354857 (on Assembly GRCh37)
HGVS:
NC_000015.9:g.31115047_102354857dup

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804081Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Apr 5, 2018) 		de novoprovider interpretation

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedprovider interpretation

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee.

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Geisinger Autism and Developmental Medicine Institute, Geisinger Health System, SCV000804081.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (1)

Description

This duplication was identified in a 4 year old female with global developmental delays, hearing impairment, sleep problems, short stature, esotropia, chronic constipation, anemia, and small PFO. Renal ultrasound was normal. Notable facial features include a long, narrow face, upslanting palpebral fissures, infraorbital creases, bulbous nasal tip, anteverted nares, and mild retrognathia. This patient also has a pathogenic 39 Mb terminal deletion of Xp22.3p11.2. These copy number variants are a result of a de novo rearrangement: 46,X,der(X)t(X;15)(p11.4;q11.2).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024