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maternal UPD(16p) AND Hemimegalencephaly

Germline classification:
Pathogenic (1 submission)
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:
RCV000494707.1

Allele description

maternal UPD(16p)

Genes:
  • PDPK1:3-phosphoinositide dependent protein kinase 1 [Gene - OMIM - HGNC]
  • ABAT:4-aminobutyrate aminotransferase [Gene - OMIM - HGNC]
  • ARL6IP1:ADP ribosylation factor like GTPase 6 interacting protein 1 [Gene - OMIM - HGNC]
  • ALG1:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Gene - OMIM - HGNC]
  • ABCA3:ATP binding cassette subfamily A member 3 [Gene - OMIM - HGNC]
  • ABCC1:ATP binding cassette subfamily C member 1 [Gene - OMIM - HGNC]
  • ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
  • ATP6V0C:ATPase H+ transporting V0 subunit c [Gene - OMIM - HGNC]
  • ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • BCL7C:BAF chromatin remodeling complex subunit BCL7C [Gene - OMIM - HGNC]
  • BAIAP3:BAI1 associated protein 3 [Gene - OMIM - HGNC]
  • BICDL2:BICD family like cargo adaptor 2 [Gene - OMIM - HGNC]
  • BRICD5:BRICHOS domain containing 5 [Gene - HGNC]
  • CLEC16A:C-type lectin domain containing 16A [Gene - OMIM - HGNC]
  • CLEC19A:C-type lectin domain containing 19A [Gene - HGNC]
  • CASKIN1:CASK interacting protein 1 [Gene - OMIM - HGNC]
  • CD19:CD19 molecule [Gene - OMIM - HGNC]
  • CD2BP2:CD2 cytoplasmic tail binding protein 2 [Gene - OMIM - HGNC]
  • CDIPT:CDP-diacylglycerol--inositol 3-phosphatidyltransferase [Gene - OMIM - HGNC]
  • CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
  • CORO7-PAM16:CORO7-PAM16 readthrough [Gene - HGNC]
  • CREBBP:CREB binding protein [Gene - OMIM - HGNC]
  • DEXI:Dexi homolog [Gene - OMIM - HGNC]
  • DNAJA3:DnaJ heat shock protein family (Hsp40) member A3 [Gene - OMIM - HGNC]
  • E4F1:E4F transcription factor 1 [Gene - OMIM - HGNC]
  • ERCC4:ERCC excision repair 4, endonuclease catalytic subunit [Gene - OMIM - HGNC]
  • ERI2:ERI1 exoribonuclease family member 2 [Gene - HGNC]
  • FBXL19:F-box and leucine rich repeat protein 19 [Gene - OMIM - HGNC]
  • FLYWCH2:FLYWCH family member 2 [Gene - HGNC]
  • FLYWCH1:FLYWCH-type zinc finger 1 [Gene - HGNC]
  • FUS:FUS RNA binding protein [Gene - OMIM - HGNC]
  • GPR139:G protein-coupled receptor 139 [Gene - OMIM - HGNC]
  • GPRC5B:G protein-coupled receptor class C group 5 member B [Gene - OMIM - HGNC]
  • GSPT1:G1 to S phase transition 1 [Gene - OMIM - HGNC]
  • GLIS2:GLIS family zinc finger 2 [Gene - OMIM - HGNC]
  • GSG1L:GSG1 like [Gene - OMIM - HGNC]
  • HIRIP3:HIRA interacting protein 3 [Gene - OMIM - HGNC]
  • HAPSTR1:HUWE1 associated protein modifying stress responses [Gene - HGNC]
  • INO80E:INO80 complex subunit E [Gene - HGNC]
  • IQCK:IQ motif containing K [Gene - HGNC]
  • ITPRIPL2:ITPRIP like 2 [Gene - HGNC]
  • JPT2:Jupiter microtubule associated homolog 2 [Gene - OMIM - HGNC]
  • KRBOX5:KRAB box domain containing 5 [Gene - HGNC]
  • LYRM1:LYR motif containing 1 [Gene - OMIM - HGNC]
  • MEFV:MEFV innate immunity regulator, pyrin [Gene - OMIM - HGNC]
  • MPV17L:MPV17 mitochondrial inner membrane protein like [Gene - OMIM - HGNC]
  • MTRNR2L4:MT-RNR2 like 4 [Gene - HGNC]
  • MLST8:MTOR associated protein, LST8 homolog [Gene - OMIM - HGNC]
  • MAZ:MYC associated zinc finger protein [Gene - OMIM - HGNC]
  • GNPTG:N-acetylglucosamine-1-phosphate transferase subunit gamma [Gene - OMIM - HGNC]
  • NAGPA:N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [Gene - OMIM - HGNC]
  • NAA60:N-alpha-acetyltransferase 60, NatF catalytic subunit [Gene - OMIM - HGNC]
  • NTAN1:N-terminal asparagine amidase [Gene - OMIM - HGNC]
  • NDUFAB1:NADH:ubiquinone oxidoreductase subunit AB1 [Gene - OMIM - HGNC]
  • NDUFB10:NADH:ubiquinone oxidoreductase subunit B10 [Gene - OMIM - HGNC]
  • NOXO1:NADPH oxidase organizer 1 [Gene - OMIM - HGNC]
  • NHERF2:NHERF family PDZ scaffold protein 2 [Gene - OMIM - HGNC]
  • NLRC3:NLR family CARD domain containing 3 [Gene - OMIM - HGNC]
  • NME3:NME/NM23 nucleoside diphosphate kinase 3 [Gene - OMIM - HGNC]
  • NOMO1:NODAL modulator 1 [Gene - OMIM - HGNC]
  • NOMO2:NODAL modulator 2 [Gene - OMIM - HGNC]
  • NOMO3:NODAL modulator 3 [Gene - OMIM - HGNC]
  • NSMCE1:NSE1 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
  • NUBP1:NUBP iron-sulfur cluster assembly factor 1, cytosolic [Gene - OMIM - HGNC]
  • NUBP2:NUBP iron-sulfur cluster assembly factor 2, cytosolic [Gene - OMIM - HGNC]
  • NMRAL1:NmrA like redox sensor 1 [Gene - OMIM - HGNC]
  • ORAI3:ORAI calcium release-activated calcium modulator 3 [Gene - OMIM - HGNC]
  • PAGR1:PAXIP1 associated glutamate rich protein 1 [Gene - OMIM - HGNC]
  • PDZD9:PDZ domain containing 9 [Gene - HGNC]
  • PYCARD:PYD and CARD domain containing [Gene - OMIM - HGNC]
  • RAB26:RAB26, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBBP6:RB binding protein 6, ubiquitin ligase [Gene - OMIM - HGNC]
  • RBFOX1:RNA binding fox-1 homolog 1 [Gene - OMIM - HGNC]
  • RNPS1:RNA binding protein with serine rich domain 1 [Gene - OMIM - HGNC]
  • POLR3E:RNA polymerase III subunit E [Gene - OMIM - HGNC]
  • RRN3:RRN3 homolog, RNA polymerase I transcription factor [Gene - OMIM - HGNC]
  • RUSF1:RUS family member 1 [Gene - HGNC]
  • RMI2:RecQ mediated genome instability 2 [Gene - OMIM - HGNC]
  • ARHGAP17:Rho GTPase activating protein 17 [Gene - OMIM - HGNC]
  • SGF29:SAGA complex associated factor 29 [Gene - OMIM - HGNC]
  • SEC14L5:SEC14 like lipid binding 5 [Gene - OMIM - HGNC]
  • SETD1A:SET domain containing 1A, histone lysine methyltransferase [Gene - OMIM - HGNC]
  • SH2B1:SH2B adaptor protein 1 [Gene - OMIM - HGNC]
  • SBK1:SH3 domain binding kinase 1 [Gene - OMIM - HGNC]
  • SLX1A:SLX1 homolog A, structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • SLX1B:SLX1 homolog B, structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • SLX4:SLX4 structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • SMG1:SMG1 nonsense mediated mRNA decay associated PI3K related kinase [Gene - OMIM - HGNC]
  • SPNS1:SPNS lysolipid transporter 1, lysophospholipid [Gene - OMIM - HGNC]
  • SRCAP:Snf2 related CREBBP activator protein [Gene - OMIM - HGNC]
  • TBX6:T-box transcription factor 6 [Gene - OMIM - HGNC]
  • TAOK2:TAO kinase 2 [Gene - OMIM - HGNC]
  • TBC1D10B:TBC1 domain family member 10B [Gene - OMIM - HGNC]
  • TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
  • THOC6:THO complex subunit 6 [Gene - OMIM - HGNC]
  • THUMPD1:THUMP domain containing 1 [Gene - OMIM - HGNC]
  • TLCD3B:TLC domain containing 3B [Gene - OMIM - HGNC]
  • TRAF7:TNF receptor associated factor 7 [Gene - OMIM - HGNC]
  • TRAP1:TNF receptor associated protein 1 [Gene - OMIM - HGNC]
  • TNFRSF12A:TNF receptor superfamily member 12A [Gene - OMIM - HGNC]
  • TNFRSF17:TNF receptor superfamily member 17 [Gene - OMIM - HGNC]
  • TP53TG3:TP53 target 3 [Gene - OMIM - HGNC]
  • TP53TG3B:TP53 target 3B [Gene - HGNC]
  • TP53TG3C:TP53 target 3C [Gene - HGNC]
  • TP53TG3D:TP53 target 3D [Gene - HGNC]
  • TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
  • TSR3:TSR3 ribosome maturation factor [Gene - OMIM - HGNC]
  • TUFM:Tu translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • UBALD1:UBA like domain containing 1 [Gene - HGNC]
  • VPS35L:VPS35 endosomal protein sorting factor like [Gene - OMIM - HGNC]
  • ATF7IP2:activating transcription factor 7 interacting protein 2 [Gene - OMIM - HGNC]
  • ACSM1:acyl-CoA synthetase medium chain family member 1 [Gene - OMIM - HGNC]
  • ACSM2A:acyl-CoA synthetase medium chain family member 2A [Gene - OMIM - HGNC]
  • ACSM2B:acyl-CoA synthetase medium chain family member 2B [Gene - OMIM - HGNC]
  • ACSM3:acyl-CoA synthetase medium chain family member 3 [Gene - OMIM - HGNC]
  • ACSM5:acyl-CoA synthetase medium chain family member 5 [Gene - OMIM - HGNC]
  • ADCY9:adenylate cyclase 9 [Gene - OMIM - HGNC]
  • ALDOA:aldolase, fructose-bisphosphate A [Gene - OMIM - HGNC]
  • AHSP:alpha hemoglobin stabilizing protein [Gene - OMIM - HGNC]
  • AMDHD2:amidohydrolase domain containing 2 [Gene - HGNC]
  • ANKS3:ankyrin repeat and sterile alpha motif domain containing 3 [Gene - OMIM - HGNC]
  • ANKS4B:ankyrin repeat and sterile alpha motif domain containing 4B [Gene - OMIM - HGNC]
  • APOBR:apolipoprotein B receptor [Gene - OMIM - HGNC]
  • AQP8:aquaporin 8 [Gene - OMIM - HGNC]
  • ARMC5:armadillo repeat containing 5 [Gene - OMIM - HGNC]
  • ASPHD1:aspartate beta-hydroxylase domain containing 1 [Gene - HGNC]
  • ATXN2L:ataxin 2 like [Gene - OMIM - HGNC]
  • BMERB1:bMERB domain containing 1 [Gene - HGNC]
  • BFAR:bifunctional apoptosis regulator [Gene - OMIM - HGNC]
  • BOLA2:bolA family member 2 [Gene - OMIM - HGNC]
  • BOLA2B:bolA family member 2B [Gene - HGNC]
  • BCKDK:branched chain keto acid dehydrogenase kinase [Gene - OMIM - HGNC]
  • BCAR4:breast cancer anti-estrogen resistance 4 [Gene - OMIM - HGNC]
  • CHP2:calcineurin like EF-hand protein 2 [Gene - HGNC]
  • CPPED1:calcineurin like phosphoesterase domain containing 1 [Gene - OMIM - HGNC]
  • CARHSP1:calcium regulated heat stable protein 1 [Gene - OMIM - HGNC]
  • CACNG3:calcium voltage-gated channel auxiliary subunit gamma 3 [Gene - OMIM - HGNC]
  • CTF1:cardiotrophin 1 [Gene - OMIM - HGNC]
  • CDIP1:cell death inducing p53 target 1 [Gene - OMIM - HGNC]
  • CEMP1:cementum protein 1 [Gene - OMIM - HGNC]
  • CCP110:centriolar coiled-coil protein 110 [Gene - OMIM - HGNC]
  • CEP20:centrosomal protein 20 [Gene - OMIM - HGNC]
  • CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
  • CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]
  • C16orf54:chromosome 16 open reading frame 54 [Gene - HGNC]
  • C16orf82:chromosome 16 open reading frame 82 [Gene - HGNC]
  • C16orf89:chromosome 16 open reading frame 89 [Gene - HGNC]
  • C16orf90:chromosome 16 open reading frame 90 [Gene - HGNC]
  • C16orf92:chromosome 16 open reading frame 92 [Gene - OMIM - HGNC]
  • C16orf96:chromosome 16 open reading frame 96 [Gene - HGNC]
  • CFAP119:cilia and flagella associated protein 119 [Gene - OMIM - HGNC]
  • CIITA:class II major histocompatibility complex transactivator [Gene - OMIM - HGNC]
  • CLDN6:claudin 6 [Gene - OMIM - HGNC]
  • CLDN9:claudin 9 [Gene - OMIM - HGNC]
  • CLUAP1:clusterin associated protein 1 [Gene - OMIM - HGNC]
  • COQ7:coenzyme Q7, hydroxylase [Gene - OMIM - HGNC]
  • CCDC154:coiled-coil domain containing 154 [Gene - OMIM - HGNC]
  • COG7:component of oligomeric golgi complex 7 [Gene - OMIM - HGNC]
  • CORO1A:coronin 1A [Gene - OMIM - HGNC]
  • CORO7:coronin 7 [Gene - OMIM - HGNC]
  • CRAMP1:cramped chromatin regulator homolog 1 [Gene - HGNC]
  • CRYM:crystallin mu [Gene - OMIM - HGNC]
  • CCNF:cyclin F [Gene - OMIM - HGNC]
  • COX6A2:cytochrome c oxidase subunit 6A2 [Gene - OMIM - HGNC]
  • DCTPP1:dCTP pyrophosphatase 1 [Gene - OMIM - HGNC]
  • DCUN1D3:defective in cullin neddylation 1 domain containing 3 [Gene - OMIM - HGNC]
  • DNASE1L2:deoxyribonuclease 1 like 2 [Gene - OMIM - HGNC]
  • DNASE1:deoxyribonuclease 1 [Gene - OMIM - HGNC]
  • DOC2A:double C2 domain alpha [Gene - OMIM - HGNC]
  • DCTN5:dynactin subunit 5 [Gene - OMIM - HGNC]
  • DNAAF8:dynein axonemal assembly factor 8 [Gene - HGNC]
  • DNAH3:dynein axonemal heavy chain 3 [Gene - OMIM - HGNC]
  • ELOB:elongin B [Gene - OMIM - HGNC]
  • ERN2:endoplasmic reticulum to nucleus signaling 2 [Gene - OMIM - HGNC]
  • ECI1:enoyl-CoA delta isomerase 1 [Gene - OMIM - HGNC]
  • EMP2:epithelial membrane protein 2 [Gene - OMIM - HGNC]
  • EME2:essential meiotic structure-specific endonuclease subunit 2 [Gene - OMIM - HGNC]
  • EEF2K:eukaryotic elongation factor 2 kinase [Gene - OMIM - HGNC]
  • EEF2KMT:eukaryotic elongation factor 2 lysine methyltransferase [Gene - OMIM - HGNC]
  • EIF3CL:eukaryotic translation initiation factor 3 subunit C like [Gene - HGNC]
  • EIF3C:eukaryotic translation initiation factor 3 subunit C [Gene - OMIM - HGNC]
  • XPO6:exportin 6 [Gene - OMIM - HGNC]
  • FBRS:fibrosin [Gene - OMIM - HGNC]
  • FAHD1:fumarylacetoacetate hydrolase domain containing 1 [Gene - OMIM - HGNC]
  • GTF3C1:general transcription factor IIIC subunit 1 [Gene - OMIM - HGNC]
  • GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]
  • EARS2:glutamyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • GDE1:glycerophosphodiester phosphodiesterase 1 [Gene - OMIM - HGNC]
  • GDPD3:glycerophosphodiester phosphodiesterase domain containing 3 [Gene - OMIM - HGNC]
  • GP2:glycoprotein 2 [Gene - OMIM - HGNC]
  • GLYR1:glyoxylate reductase 1 homolog [Gene - OMIM - HGNC]
  • GGA2:golgi associated, gamma adaptin ear containing, ARF binding protein 2 [Gene - OMIM - HGNC]
  • GFER:growth factor, augmenter of liver regeneration [Gene - OMIM - HGNC]
  • HMOX2:heme oxygenase 2 [Gene - OMIM - HGNC]
  • HS3ST2:heparan sulfate-glucosamine 3-sulfotransferase 2 [Gene - OMIM - HGNC]
  • HS3ST4:heparan sulfate-glucosamine 3-sulfotransferase 4 [Gene - OMIM - HGNC]
  • HS3ST6:heparan sulfate-glucosamine 3-sulfotransferase 6 [Gene - OMIM - HGNC]
  • HCFC1R1:host cell factor C1 regulator 1 [Gene - OMIM - HGNC]
  • HSD3B7:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Gene - OMIM - HGNC]
  • HAGH:hydroxyacylglutathione hydrolase [Gene - OMIM - HGNC]
  • IGSF6:immunoglobulin superfamily member 6 [Gene - OMIM - HGNC]
  • IGFALS:insulin like growth factor binding protein acid labile subunit [Gene - OMIM - HGNC]
  • ITGAD:integrin subunit alpha D [Gene - OMIM - HGNC]
  • ITGAL:integrin subunit alpha L [Gene - OMIM - HGNC]
  • ITGAM:integrin subunit alpha M [Gene - OMIM - HGNC]
  • ITGAX:integrin subunit alpha X [Gene - OMIM - HGNC]
  • IL21R:interleukin 21 receptor [Gene - OMIM - HGNC]
  • IL27:interleukin 27 [Gene - OMIM - HGNC]
  • IL32:interleukin 32 [Gene - OMIM - HGNC]
  • IL4R:interleukin 4 receptor [Gene - OMIM - HGNC]
  • IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
  • KATNIP:katanin interacting protein [Gene - OMIM - HGNC]
  • KIF22:kinesin family member 22 [Gene - OMIM - HGNC]
  • KREMEN2:kringle containing transmembrane protein 2 [Gene - OMIM - HGNC]
  • LCMT1:leucine carboxyl methyltransferase 1 [Gene - OMIM - HGNC]
  • LAT:linker for activation of T cells [Gene - OMIM - HGNC]
  • LDAF1:lipid droplet assembly factor 1 [Gene - OMIM - HGNC]
  • LITAF:lipopolysaccharide induced TNF factor [Gene - OMIM - HGNC]
  • KAT8:lysine acetyltransferase 8 [Gene - OMIM - HGNC]
  • KDM8:lysine demethylase 8 [Gene - OMIM - HGNC]
  • KNOP1:lysine rich nucleolar protein 1 [Gene - HGNC]
  • MGRN1:mahogunin ring finger 1 [Gene - OMIM - HGNC]
  • MVP:major vault protein [Gene - OMIM - HGNC]
  • MMP25:matrix metallopeptidase 25 [Gene - OMIM - HGNC]
  • MARF1:meiosis regulator and mRNA stability factor 1 [Gene - OMIM - HGNC]
  • MEIOB:meiosis specific with OB-fold [Gene - OMIM - HGNC]
  • MSRB1:methionine sulfoxide reductase B1 [Gene - OMIM - HGNC]
  • METTL22:methyltransferase 22, Kin17 lysine [Gene - OMIM - HGNC]
  • METTL9:methyltransferase like 9 [Gene - OMIM - HGNC]
  • MIR1225:microRNA 1225 [Gene - OMIM - HGNC]
  • MIR193B:microRNA 193b [Gene - OMIM - HGNC]
  • MIR365A:microRNA 365a [Gene - OMIM - HGNC]
  • MRPS34:mitochondrial ribosomal protein S34 [Gene - OMIM - HGNC]
  • MAPK3:mitogen-activated protein kinase 3 [Gene - OMIM - HGNC]
  • MAPK8IP3:mitogen-activated protein kinase 8 interacting protein 3 [Gene - OMIM - HGNC]
  • MOSMO:modulator of smoothened [Gene - HGNC]
  • MRTFB:myocardin related transcription factor B [Gene - OMIM - HGNC]
  • MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
  • MYL11:myosin light chain 11 [Gene - OMIM - HGNC]
  • NTN3:netrin 3 [Gene - OMIM - HGNC]
  • NPW:neuropeptide W [Gene - OMIM - HGNC]
  • NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]
  • NFATC2IP:nuclear factor of activated T cells 2 interacting protein [Gene - OMIM - HGNC]
  • NPIPA1:nuclear pore complex interacting protein family member A1 [Gene - OMIM - HGNC]
  • NPIPA2:nuclear pore complex interacting protein family member A2 [Gene - HGNC]
  • NPIPA3:nuclear pore complex interacting protein family member A3 [Gene - HGNC]
  • NPIPA5:nuclear pore complex interacting protein family member A5 [Gene - HGNC]
  • NPIPB3:nuclear pore complex interacting protein family member B3 [Gene - OMIM - HGNC]
  • NPIPB4:nuclear pore complex interacting protein family member B4 [Gene - HGNC]
  • NPIPB5:nuclear pore complex interacting protein family member B5 [Gene - HGNC]
  • NPIPB6:nuclear pore complex interacting protein family member B6 [Gene - HGNC]
  • NUPR1:nuclear protein 1, transcriptional regulator [Gene - OMIM - HGNC]
  • NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
  • NUDT16L1:nudix hydrolase 16 like 1 [Gene - OMIM - HGNC]
  • OR1F1:olfactory receptor family 1 subfamily F member 1 [Gene - OMIM - HGNC]
  • OR2C1:olfactory receptor family 2 subfamily C member 1 [Gene - HGNC]
  • OTOA:otoancorin [Gene - OMIM - HGNC]
  • PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
  • PTX4:pentraxin 4 [Gene - OMIM - HGNC]
  • PPL:periplakin [Gene - OMIM - HGNC]
  • PGP:phosphoglycolate phosphatase [Gene - OMIM - HGNC]
  • PLA2G10:phospholipase A2 group X [Gene - OMIM - HGNC]
  • PMM2:phosphomannomutase 2 [Gene - OMIM - HGNC]
  • PHKG2:phosphorylase kinase catalytic subunit gamma 2 [Gene - OMIM - HGNC]
  • PLK1:polo like kinase 1 [Gene - OMIM - HGNC]
  • PARN:poly(A)-specific ribonuclease [Gene - OMIM - HGNC]
  • PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
  • KCTD13:potassium channel tetramerization domain containing 13 [Gene - OMIM - HGNC]
  • KCTD5:potassium channel tetramerization domain containing 5 [Gene - OMIM - HGNC]
  • PAM16:presequence translocase associated motor 16 [Gene - OMIM - HGNC]
  • PAQR4:progestin and adipoQ receptor family member 4 [Gene - OMIM - HGNC]
  • PRR14:proline rich 14 [Gene - OMIM - HGNC]
  • PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]
  • PRM1:protamine 1 [Gene - OMIM - HGNC]
  • PRM2:protamine 2 [Gene - OMIM - HGNC]
  • PRM3:protamine 3 [Gene - HGNC]
  • PDILT:protein disulfide isomerase like, testis expressed [Gene - OMIM - HGNC]
  • PRKCB:protein kinase C beta [Gene - OMIM - HGNC]
  • PKMYT1:protein kinase, membrane associated tyrosine/threonine 1 [Gene - OMIM - HGNC]
  • PPP4C:protein phosphatase 4 catalytic subunit [Gene - OMIM - HGNC]
  • PDXDC1:pyridoxal dependent decarboxylase domain containing 1 [Gene - OMIM - HGNC]
  • PYDC1:pyrin domain containing 1 [Gene - OMIM - HGNC]
  • QPRT:quinolinate phosphoribosyltransferase [Gene - OMIM - HGNC]
  • RABEP2:rabaptin, RAB GTPase binding effector protein 2 [Gene - OMIM - HGNC]
  • RSL1D1:ribosomal L1 domain containing 1 [Gene - OMIM - HGNC]
  • RPL3L:ribosomal protein L3 like [Gene - OMIM - HGNC]
  • RPS15A:ribosomal protein S15a [Gene - OMIM - HGNC]
  • RPS2:ribosomal protein S2 [Gene - OMIM - HGNC]
  • RNF151:ring finger protein 151 [Gene - HGNC]
  • RNF40:ring finger protein 40 [Gene - OMIM - HGNC]
  • ROGDI:rogdi atypical leucine zipper [Gene - OMIM - HGNC]
  • SRL:sarcalumenin [Gene - OMIM - HGNC]
  • SEZ6L2:seizure related 6 homolog like 2 [Gene - OMIM - HGNC]
  • SEPHS2:selenophosphate synthetase 2 [Gene - OMIM - HGNC]
  • SEPTIN12:septin 12 [Gene - OMIM - HGNC]
  • SEPTIN1:septin 1 [Gene - OMIM - HGNC]
  • PRSS21:serine protease 21 [Gene - OMIM - HGNC]
  • PRSS22:serine protease 22 [Gene - OMIM - HGNC]
  • PRSS27:serine protease 27 [Gene - OMIM - HGNC]
  • PRSS33:serine protease 33 [Gene - OMIM - HGNC]
  • PRSS36:serine protease 36 [Gene - OMIM - HGNC]
  • PRSS41:serine protease 41 [Gene - HGNC]
  • PRSS53:serine protease 53 [Gene - OMIM - HGNC]
  • PRSS8:serine protease 8 [Gene - OMIM - HGNC]
  • SRRM2:serine/arginine repetitive matrix 2 [Gene - OMIM - HGNC]
  • SHISA9:shisa family member 9 [Gene - OMIM - HGNC]
  • SDR42E2:short chain dehydrogenase/reductase family 42E, member 2 [Gene - HGNC]
  • SPN:sialophorin [Gene - OMIM - HGNC]
  • SMIM22:small integral membrane protein 22 [Gene - HGNC]
  • SNHG9:small nucleolar RNA host gene 9 [Gene - HGNC]
  • SCNN1B:sodium channel epithelial 1 subunit beta [Gene - OMIM - HGNC]
  • SCNN1G:sodium channel epithelial 1 subunit gamma [Gene - OMIM - HGNC]
  • SLC5A11:solute carrier family 5 member 11 [Gene - OMIM - HGNC]
  • SLC5A2:solute carrier family 5 member 2 [Gene - OMIM - HGNC]
  • SNX29:sorting nexin 29 [Gene - HGNC]
  • SPSB3:splA/ryanodine receptor domain and SOCS box containing 3 [Gene - OMIM - HGNC]
  • SNN:stannin [Gene - OMIM - HGNC]
  • SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]
  • SULT1A2:sulfotransferase family 1A member 2 [Gene - OMIM - HGNC]
  • SULT1A3:sulfotransferase family 1A member 3 [Gene - OMIM - HGNC]
  • SULT1A4:sulfotransferase family 1A member 4 [Gene - OMIM - HGNC]
  • SOCS1:suppressor of cytokine signaling 1 [Gene - OMIM - HGNC]
  • SYNGR3:synaptogyrin 3 [Gene - OMIM - HGNC]
  • SYT17:synaptotagmin 17 [Gene - HGNC]
  • STX1B:syntaxin 1B [Gene - OMIM - HGNC]
  • STX4:syntaxin 4 [Gene - OMIM - HGNC]
  • TEKT5:tektin 5 [Gene - OMIM - HGNC]
  • TELO2:telomere maintenance 2 [Gene - OMIM - HGNC]
  • TXNDC11:thioredoxin domain containing 11 [Gene - OMIM - HGNC]
  • TIGD7:tigger transposable element derived 7 [Gene - OMIM - HGNC]
  • TVP23A:trans-golgi network vesicle protein 23 homolog A [Gene - HGNC]
  • TFAP4:transcription factor AP-4 [Gene - OMIM - HGNC]
  • TBL3:transducin beta like 3 [Gene - OMIM - HGNC]
  • TGFB1I1:transforming growth factor beta 1 induced transcript 1 [Gene - OMIM - HGNC]
  • TNP2:transition protein 2 [Gene - OMIM - HGNC]
  • TMC5:transmembrane channel like 5 [Gene - OMIM - HGNC]
  • TMC7:transmembrane channel like 7 [Gene - OMIM - HGNC]
  • TMEM114:transmembrane protein 114 [Gene - OMIM - HGNC]
  • TMEM186:transmembrane protein 186 [Gene - HGNC]
  • TMEM204:transmembrane protein 204 [Gene - OMIM - HGNC]
  • TMEM219:transmembrane protein 219 [Gene - OMIM - HGNC]
  • TNRC6A:trinucleotide repeat containing adaptor 6A [Gene - OMIM - HGNC]
  • TRIM72:tripartite motif containing 72 [Gene - OMIM - HGNC]
  • TPSAB1:tryptase alpha/beta 1 [Gene - OMIM - HGNC]
  • TPSB2:tryptase beta 2 [Gene - OMIM - HGNC]
  • TPSD1:tryptase delta 1 [Gene - OMIM - HGNC]
  • TEDC2:tubulin epsilon and delta complex 2 [Gene - HGNC]
  • UBN1:ubinuclein 1 [Gene - OMIM - HGNC]
  • UQCC4:ubiquinol-cytochrome c reductase complex assembly factor 4 [Gene - HGNC]
  • UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
  • UBE2I:ubiquitin conjugating enzyme E2 I [Gene - OMIM - HGNC]
  • UBFD1:ubiquitin family domain containing 1 [Gene - HGNC]
  • USP31:ubiquitin specific peptidase 31 [Gene - OMIM - HGNC]
  • USP7:ubiquitin specific peptidase 7 [Gene - OMIM - HGNC]
  • UNKL:unk like zinc finger [Gene - OMIM - HGNC]
  • UMOD:uromodulin [Gene - OMIM - HGNC]
  • VASN:vasorin [Gene - OMIM - HGNC]
  • VKORC1:vitamin K epoxide reductase complex subunit 1 [Gene - OMIM - HGNC]
  • VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]
  • XYLT1:xylosyltransferase 1 [Gene - OMIM - HGNC]
  • YPEL3:yippee like 3 [Gene - OMIM - HGNC]
  • ZC3H7A:zinc finger CCCH-type containing 7A [Gene - OMIM - HGNC]
  • ZSCAN10:zinc finger and SCAN domain containing 10 [Gene - OMIM - HGNC]
  • ZSCAN32:zinc finger and SCAN domain containing 32 [Gene - HGNC]
  • ZNF174:zinc finger protein 174 [Gene - OMIM - HGNC]
  • ZNF200:zinc finger protein 200 [Gene - OMIM - HGNC]
  • ZNF205:zinc finger protein 205 [Gene - OMIM - HGNC]
  • ZNF213:zinc finger protein 213 [Gene - OMIM - HGNC]
  • ZNF263:zinc finger protein 263 [Gene - OMIM - HGNC]
  • ZNF267:zinc finger protein 267 [Gene - OMIM - HGNC]
  • ZNF48:zinc finger protein 48 [Gene - HGNC]
  • ZNF500:zinc finger protein 500 [Gene - HGNC]
  • ZNF597:zinc finger protein 597 [Gene - OMIM - HGNC]
  • ZNF598:zinc finger protein 598, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • ZNF629:zinc finger protein 629 [Gene - OMIM - HGNC]
  • ZNF646:zinc finger protein 646 [Gene - OMIM - HGNC]
  • ZNF668:zinc finger protein 668 [Gene - OMIM - HGNC]
  • ZNF688:zinc finger protein 688 [Gene - HGNC]
  • ZNF689:zinc finger protein 689 [Gene - OMIM - HGNC]
  • ZNF747:zinc finger protein 747 [Gene - HGNC]
  • ZNF75A:zinc finger protein 75A [Gene - OMIM - HGNC]
  • ZNF764:zinc finger protein 764 [Gene - OMIM - HGNC]
  • ZNF768:zinc finger protein 768 [Gene - OMIM - HGNC]
  • ZNF771:zinc finger protein 771 [Gene - HGNC]
  • ZNF785:zinc finger protein 785 [Gene - HGNC]
  • ZNF843:zinc finger protein 843 [Gene - HGNC]
  • ZKSCAN2:zinc finger with KRAB and SCAN domains 2 [Gene - HGNC]
  • ZP2:zona pellucida glycoprotein 2 [Gene - OMIM - HGNC]
  • ZG16:zymogen granule protein 16 [Gene - OMIM - HGNC]
  • ZG16B:zymogen granule protein 16B [Gene - HGNC]
Variant type:
Complex
Cytogenetic location:
16p13.3-11.2
Genomic location:
Chr16: 1280042 - 33710558 (on Assembly GRCh37)
Preferred name:
maternal UPD(16p)
HGVS:
    Note:
    Somatic maternal uniparental disomy spanning the entire p-arm of chromosome 16 with no change in copy number.

    Condition(s)

    Name:
    Hemimegalencephaly
    Synonyms:
    Unilateral Megalencephaly
    Identifiers:
    MONDO: MONDO:0020492; MedGen: C0431391; Human Phenotype Ontology: HP:0007206

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000485072Heinzen Lab, Columbia University
    no assertion criteria provided
    		Pathogenicsomaticresearch

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedsomaticyesnot providednot providednot providednot providednot providedresearch

    Details of each submission

    From Heinzen Lab, Columbia University, SCV000485072.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providedresearchnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1somaticyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Mar 26, 2023