- This record was updated by the submitter. Please see the current version.
maternal UPD(16p) AND Hemimegalencephaly
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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:
- This HGVS expression did not pass validation
- 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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000485072 | Heinzen Lab, Columbia University | no assertion criteria provided | Pathogenic | somatic | research |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | somatic | yes | not provided | not provided | not provided | not provided | not provided | research |
Details of each submission
From Heinzen Lab, Columbia University, SCV000485072.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | research | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | somatic | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Mar 26, 2023