Single allele AND Neurodevelopmental disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 9, 2019
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:: RCV000787436.2

Allele description [Variation Report for Single allele]

Genes:

HMGCR:3-hydroxy-3-methylglutaryl-CoA reductase [Gene - OMIM - HGNC]
HMGCS1:3-hydroxy-3-methylglutaryl-CoA synthase 1 [Gene - OMIM - HGNC]
OXCT1:3-oxoacid CoA-transferase 1 [Gene - OMIM - HGNC]
HTR1A:5-hydroxytryptamine receptor 1A [Gene - OMIM - HGNC]
HTR4:5-hydroxytryptamine receptor 4 [Gene - OMIM - HGNC]
ADAMTS12:ADAM metallopeptidase with thrombospondin type 1 motif 12 [Gene - OMIM - HGNC]
ADAMTS19:ADAM metallopeptidase with thrombospondin type 1 motif 19 [Gene - OMIM - HGNC]
ADAMTS6:ADAM metallopeptidase with thrombospondin type 1 motif 6 [Gene - OMIM - HGNC]
ARL14EPL:ADP ribosylation factor like GTPase 14 effector protein like [Gene - HGNC]
ARL15:ADP ribosylation factor like GTPase 15 [Gene - HGNC]
AFF4:ALF transcription elongation factor 4 [Gene - OMIM - HGNC]
ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
ANKHD1-EIF4EBP3:ANKHD1-EIF4EBP3 readthrough [Gene - HGNC]
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
ARB2A:ARB2 cotranscriptional regulator A [Gene - HGNC]
ATP6AP1L:ATPase H+ transporting accessory protein 1 like [Gene - HGNC]
ARAP3:ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 [Gene - OMIM - HGNC]
BDP1:B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [Gene - OMIM - HGNC]
CCL28:C-C motif chemokine ligand 28 [Gene - OMIM - HGNC]
CXCL14:C-X-C motif chemokine ligand 14 [Gene - OMIM - HGNC]
C1QTNF3:C1q and TNF related 3 [Gene - OMIM - HGNC]
CARTPT:CART prepropeptide [Gene - OMIM - HGNC]
CD14:CD14 molecule [Gene - OMIM - HGNC]
CD180:CD180 molecule [Gene - OMIM - HGNC]
CDC42SE2:CDC42 small effector 2 [Gene - OMIM - HGNC]
CDKN2AIPNL:CDKN2A interacting protein N-terminal like [Gene - HGNC]
COMMD10:COMM domain containing 10 [Gene - OMIM - HGNC]
CWC27:CWC27 spliceosome associated cyclophilin [Gene - OMIM - HGNC]
CXXC5:CXXC finger protein 5 [Gene - OMIM - HGNC]
DAB2:DAB adaptor protein 2 [Gene - OMIM - HGNC]
DELE1:DAP3 binding cell death enhancer 1 [Gene - OMIM - HGNC]
DDX46:DEAD-box helicase 46 [Gene - OMIM - HGNC]
DDX4:DEAD-box helicase 4 [Gene - OMIM - HGNC]
DEPDC1B:DEP domain containing 1B [Gene - OMIM - HGNC]
DHX29:DExH-box helicase 29 [Gene - OMIM - HGNC]
DIMT1:DIM1 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
POLK:DNA polymerase kappa [Gene - OMIM - HGNC]
DND1:DND microRNA-mediated repression inhibitor 1 [Gene - OMIM - HGNC]
DTWD2:DTW domain containing 2 [Gene - HGNC]
DMXL1:Dmx like 1 [Gene - OMIM - HGNC]
DNAJC18:DnaJ heat shock protein family (Hsp40) member C18 [Gene - HGNC]
DNAJC21:DnaJ heat shock protein family (Hsp40) member C21 [Gene - OMIM - HGNC]
EDIL3:EGF like repeats and discoidin domains 3 [Gene - OMIM - HGNC]
EGFLAM:EGF like, fibronectin type III and laminin G domains [Gene - OMIM - HGNC]
EGFLAM-AS2:EGFLAM antisense RNA 2 [Gene - HGNC]
EGFLAM-AS4:EGFLAM antisense RNA 4 [Gene - HGNC]
ELOVL7:ELOVL fatty acid elongase 7 [Gene - OMIM - HGNC]
ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]
FBXL17:F-box and leucine rich repeat protein 17 [Gene - OMIM - HGNC]
FBXL7:F-box and leucine rich repeat protein 7 [Gene - OMIM - HGNC]
FBXO38:F-box protein 38 [Gene - OMIM - HGNC]
FBXO4:F-box protein 4 [Gene - OMIM - HGNC]
F2RL1:F2R like trypsin receptor 1 [Gene - OMIM - HGNC]
FCHSD1:FCH and double SH3 domains 1 [Gene - OMIM - HGNC]
FCHO2:FCH and mu domain containing endocytic adaptor 2 [Gene - OMIM - HGNC]
FER:FER tyrosine kinase [Gene - OMIM - HGNC]
FYB1:FYN binding protein 1 [Gene - OMIM - HGNC]
GPR150:G protein-coupled receptor 150 [Gene - HGNC]
GPR151:G protein-coupled receptor 151 [Gene - OMIM - HGNC]
GPBP1:GC-rich promoter binding protein 1 [Gene - OMIM - HGNC]
GDNF-AS1:GDNF antisense RNA 1 [Gene - HGNC]
GFRA3:GDNF family receptor alpha 3 [Gene - OMIM - HGNC]
GRAMD2B:GRAM domain containing 2B [Gene - OMIM - HGNC]
GAPT:GRB2 binding adaptor protein, transmembrane [Gene - OMIM - HGNC]
GTF2H2C:GTF2H2 family member C [Gene - HGNC]
GFM2:GTP dependent ribosome recycling factor mitochondrial 2 [Gene - OMIM - HGNC]
GRPEL2:GrpE like 2, mitochondrial [Gene - OMIM - HGNC]
HMGXB3:HMG-box containing 3 [Gene - OMIM - HGNC]
IK:IK cytokine [Gene - OMIM - HGNC]
IQGAP2:IQ motif containing GTPase activating protein 2 [Gene - OMIM - HGNC]
ISL1:ISL LIM homeobox 1 [Gene - OMIM - HGNC]
IGIP:IgA inducing protein [Gene - HGNC]
KIAA0825:KIAA0825 [Gene - OMIM - HGNC]
LHFPL2:LHFPL tetraspan subfamily member 2 [Gene - OMIM - HGNC]
LIFR:LIF receptor subunit alpha [Gene - OMIM - HGNC]
LMBRD2:LMBR1 domain containing 2 [Gene - OMIM - HGNC]
LYRM7:LYR motif containing 7 [Gene - OMIM - HGNC]
LYSMD3:LysM domain containing 3 [Gene - HGNC]
MARVELD2:MARVEL domain containing 2 [Gene - OMIM - HGNC]
MCC:MCC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
MIER3:MIER family member 3 [Gene - OMIM - HGNC]
MTRNR2L2:MT-RNR2 like 2 [Gene - HGNC]
MTREX:Mtr4 exosome RNA helicase [Gene - OMIM - HGNC]
NADK2:NAD kinase 2, mitochondrial [Gene - OMIM - HGNC]
NDUFAF2:NADH:ubiquinone oxidoreductase complex assembly factor 2 [Gene - OMIM - HGNC]
NDUFA2:NADH:ubiquinone oxidoreductase subunit A2 [Gene - OMIM - HGNC]
NDUFS4:NADH:ubiquinone oxidoreductase subunit S4 [Gene - OMIM - HGNC]
NIPBL:NIPBL cohesin loading factor [Gene - OMIM - HGNC]
NAIP:NLR family apoptosis inhibitory protein [Gene - OMIM - HGNC]
NME5:NME/NM23 family member 5 [Gene - OMIM - HGNC]
NSA2:NSA2 ribosome biogenesis factor [Gene - OMIM - HGNC]
NDFIP1:Nedd4 family interacting protein 1 [Gene - OMIM - HGNC]
OTULIN:OTU deubiquitinase with linear linkage specificity [Gene - OMIM - HGNC]
PDLIM4:PDZ and LIM domain 4 [Gene - OMIM - HGNC]
PDZD2:PDZ domain containing 2 [Gene - OMIM - HGNC]
PLAC8L1:PLAC8 like 1 [Gene - HGNC]
POC5:POC5 centriolar protein [Gene - OMIM - HGNC]
POU4F3:POU class 4 homeobox 3 [Gene - OMIM - HGNC]
POU5F2:POU domain class 5, transcription factor 2 [Gene - HGNC]
PPARGC1B:PPARG coactivator 1 beta [Gene - OMIM - HGNC]
PRDM6:PR/SET domain 6 [Gene - OMIM - HGNC]
PRDM9:PR/SET domain 9 [Gene - OMIM - HGNC]
PRELID2:PRELI domain containing 2 [Gene - HGNC]
RAB3C:RAB3C, member RAS oncogene family [Gene - OMIM - HGNC]
RIMOC1:RAB7A interacting MON1-CCZ1 complex subunit 1 [Gene - OMIM - HGNC]
RAD1:RAD1 checkpoint DNA exonuclease [Gene - OMIM - HGNC]
RAD17:RAD17 checkpoint clamp loader component [Gene - OMIM - HGNC]
RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
RANBP3L:RAN binding protein 3 like [Gene - OMIM - HGNC]
RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
RELL2:RELT like 2 [Gene - OMIM - HGNC]
RIOK2:RIO kinase 2 [Gene - OMIM - HGNC]
RBM27:RNA binding motif protein 27 [Gene - OMIM - HGNC]
POLR3G:RNA polymerase III subunit G [Gene - OMIM - HGNC]
RICTOR:RPTOR independent companion of MTOR complex 2 [Gene - OMIM - HGNC]
RAPGEF6:Rap guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
RASGRF2:Ras protein specific guanine nucleotide releasing factor 2 [Gene - OMIM - HGNC]
ARHGAP26:Rho GTPase activating protein 26 [Gene - OMIM - HGNC]
ARHGEF28:Rho guanine nucleotide exchange factor 28 [Gene - OMIM - HGNC]
ARHGEF37:Rho guanine nucleotide exchange factor 37 [Gene - HGNC]
RHOBTB3:Rho related BTB domain containing 3 [Gene - OMIM - HGNC]
RFESD:Rieske Fe-S domain containing [Gene - HGNC]
SKP1:S-phase kinase associated protein 1 [Gene - OMIM - HGNC]
SKP2:S-phase kinase associated protein 2 [Gene - OMIM - HGNC]
S100Z:S100 calcium binding protein Z [Gene - OMIM - HGNC]
SEC24A:SEC24 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
SETD9:SET domain containing 9 [Gene - HGNC]
SH3TC2:SH3 domain and tetratricopeptide repeats 2 [Gene - OMIM - HGNC]
SH3RF2:SH3 domain containing ring finger 2 [Gene - OMIM - HGNC]
SIL1:SIL1 nucleotide exchange factor [Gene - OMIM - HGNC]
SKIC3:SKI3 subunit of superkiller complex [Gene - OMIM - HGNC]
SMAD5:SMAD family member 5 [Gene - OMIM - HGNC]
SLF1:SMC5-SMC6 complex localization factor 1 [Gene - OMIM - HGNC]
SPOCK1:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 [Gene - OMIM - HGNC]
SREK1IP1:SREK1 interacting protein 1 [Gene - HGNC]
ST8SIA4:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 [Gene - OMIM - HGNC]
SUB1:SUB1 regulator of transcription [Gene - OMIM - HGNC]
STARD4:StAR related lipid transfer domain containing 4 [Gene - OMIM - HGNC]
TAF7:TATA-box binding protein associated factor 7 [Gene - OMIM - HGNC]
TAF9:TATA-box binding protein associated factor 9 [Gene - OMIM - HGNC]
TIFAB:TIFA inhibitor [Gene - OMIM - HGNC]
TICAM2:TIR domain containing adaptor molecule 2 [Gene - OMIM - HGNC]
TMED7-TICAM2:TMED7-TICAM2 readthrough [Gene - HGNC]
TNFAIP8:TNF alpha induced protein 8 [Gene - OMIM - HGNC]
UGT3A1:UDP glycosyltransferase family 3 member A1 [Gene - OMIM - HGNC]
UGT3A2:UDP glycosyltransferase family 3 member A2 [Gene - OMIM - HGNC]
UTP15:UTP15 small subunit processome component [Gene - OMIM - HGNC]
WDR36:WD repeat domain 36 [Gene - OMIM - HGNC]
WDR41:WD repeat domain 41 [Gene - OMIM - HGNC]
WDR55:WD repeat domain 55 [Gene - HGNC]
WDR70:WD repeat domain 70 [Gene - OMIM - HGNC]
WNT8A:Wnt family member 8A [Gene - OMIM - HGNC]
XRCC4:X-ray repair cross complementing 4 [Gene - OMIM - HGNC]
YTHDC2:YTH N6-methyladenosine RNA binding protein C2 [Gene - OMIM - HGNC]
YIPF5:Yip1 domain family member 5 [Gene - OMIM - HGNC]
ACTBL2:actin beta like 2 [Gene - OMIM - HGNC]
ABLIM3:actin binding LIM protein family member 3 [Gene - OMIM - HGNC]
AFAP1L1:actin filament associated protein 1 like 1 [Gene - OMIM - HGNC]
ACSL6:acyl-CoA synthetase long chain family member 6 [Gene - OMIM - HGNC]
ACOT12:acyl-CoA thioesterase 12 [Gene - OMIM - HGNC]
AP3B1:adaptor related protein complex 3 subunit beta 1 [Gene - OMIM - HGNC]
AP3S1:adaptor related protein complex 3 subunit sigma 1 [Gene - OMIM - HGNC]
ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]
ADRB2:adrenoceptor beta 2 [Gene - OMIM - HGNC]
AGXT2:alanine--glyoxylate aminotransferase 2 [Gene - OMIM - HGNC]
ALDH7A1:aldehyde dehydrogenase 7 family member A1 [Gene - OMIM - HGNC]
KGD4:alpha-ketoglutarate dehydrogenase subunit 4 [Gene - OMIM - HGNC]
AMACR:alpha-methylacyl-CoA racemase [Gene - OMIM - HGNC]
APBB3:amyloid beta precursor protein binding family B member 3 [Gene - OMIM - HGNC]
AGGF1:angiogenic factor with G-patch and FHA domains 1 [Gene - OMIM - HGNC]
ANKHD1:ankyrin repeat and KH domain containing 1 [Gene - OMIM - HGNC]
ANKDD1B:ankyrin repeat and death domain containing 1B [Gene - OMIM - HGNC]
ANKRD31:ankyrin repeat domain 31 [Gene - OMIM - HGNC]
ANKRD34B:ankyrin repeat domain 34B [Gene - OMIM - HGNC]
ANKRD55:ankyrin repeat domain 55 [Gene - OMIM - HGNC]
ANKRA2:ankyrin repeat family A member 2 [Gene - OMIM - HGNC]
ANXA2R:annexin A2 receptor [Gene - OMIM - HGNC]
ARRDC3:arrestin domain containing 3 [Gene - OMIM - HGNC]
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
ARSK:arylsulfatase family member K [Gene - OMIM - HGNC]
ATG10:autophagy related 10 [Gene - OMIM - HGNC]
ATG12:autophagy related 12 [Gene - OMIM - HGNC]
BTF3:basic transcription factor 3 [Gene - OMIM - HGNC]
BHMT2:betaine--homocysteine S-methyltransferase 2 [Gene - OMIM - HGNC]
BHMT:betaine--homocysteine S-methyltransferase [Gene - OMIM - HGNC]
BRIX1:biogenesis of ribosomes BRX1 [Gene - OMIM - HGNC]
BASP1:brain abundant membrane attached signal protein 1 [Gene - OMIM - HGNC]
BRD8:bromodomain containing 8 [Gene - OMIM - HGNC]
CDH10:cadherin 10 [Gene - OMIM - HGNC]
CDH12:cadherin 12 [Gene - OMIM - HGNC]
CDH18:cadherin 18 [Gene - OMIM - HGNC]
CDH6:cadherin 6 [Gene - OMIM - HGNC]
CDH9:cadherin 9 [Gene - OMIM - HGNC]
CAMLG:calcium modulating ligand [Gene - OMIM - HGNC]
CAMK4:calcium/calmodulin dependent protein kinase IV [Gene - OMIM - HGNC]
CAPSL:calcyphosine like [Gene - OMIM - HGNC]
CAST:calpastatin [Gene - OMIM - HGNC]
CMYA5:cardiomyopathy associated 5 [Gene - OMIM - HGNC]
CSNK1A1:casein kinase 1 alpha 1 [Gene - OMIM - HGNC]
CSNK1G3:casein kinase 1 gamma 3 [Gene - OMIM - HGNC]
CARD6:caspase recruitment domain family member 6 [Gene - OMIM - HGNC]
CTNNA1:catenin alpha 1 [Gene - OMIM - HGNC]
CATSPER3:cation channel sperm associated 3 [Gene - OMIM - HGNC]
CDC20B:cell division cycle 20B [Gene - OMIM - HGNC]
CDC23:cell division cycle 23 [Gene - OMIM - HGNC]
CDC25C:cell division cycle 25C [Gene - OMIM - HGNC]
CETN3:centrin 3 [Gene - OMIM - HGNC]
CENPH:centromere protein H [Gene - OMIM - HGNC]
CENPK:centromere protein K [Gene - OMIM - HGNC]
CEP120:centrosomal protein 120 [Gene - OMIM - HGNC]
CERT1:ceramide transporter 1 [Gene - OMIM - HGNC]
CHSY3:chondroitin sulfate synthase 3 [Gene - OMIM - HGNC]
CHD1:chromodomain helicase DNA binding protein 1 [Gene - OMIM - HGNC]
C5orf15:chromosome 5 open reading frame 15 [Gene - HGNC]
C5orf22:chromosome 5 open reading frame 22 [Gene - HGNC]
C5orf24:chromosome 5 open reading frame 24 [Gene - HGNC]
C5orf34:chromosome 5 open reading frame 34 [Gene - HGNC]
C5orf46:chromosome 5 open reading frame 46 [Gene - HGNC]
C5orf63:chromosome 5 open reading frame 63 [Gene - HGNC]
C5orf64:chromosome 5 putative open reading frame 64 [Gene - HGNC]
CPLANE1:ciliogenesis and planar polarity effector complex subunit 1 [Gene - OMIM - HGNC]
F2RL2:coagulation factor II thrombin receptor like 2 [Gene - OMIM - HGNC]
F2R:coagulation factor II thrombin receptor [Gene - OMIM - HGNC]
CCDC112:coiled-coil domain containing 112 [Gene - HGNC]
CCDC125:coiled-coil domain containing 125 [Gene - OMIM - HGNC]
CCDC152:coiled-coil domain containing 152 [Gene - HGNC]
CSF1R:colony stimulating factor 1 receptor [Gene - OMIM - HGNC]
CSF2:colony stimulating factor 2 [Gene - OMIM - HGNC]
C6:complement C6 [Gene - OMIM - HGNC]
C7:complement C7 [Gene - OMIM - HGNC]
C9:complement C9 [Gene - OMIM - HGNC]
CTXN3:cortexin 3 [Gene - OMIM - HGNC]
CRHBP:corticotropin releasing hormone binding protein [Gene - OMIM - HGNC]
CKMT2:creatine kinase, mitochondrial 2 [Gene - OMIM - HGNC]
CCNB1:cyclin B1 [Gene - OMIM - HGNC]
CCNH:cyclin H [Gene - OMIM - HGNC]
CCNI2:cyclin I family member 2 [Gene - OMIM - HGNC]
CCNO:cyclin O [Gene - OMIM - HGNC]
CDK7:cyclin dependent kinase 7 [Gene - OMIM - HGNC]
CDKL3:cyclin dependent kinase like 3 [Gene - OMIM - HGNC]
CDO1:cysteine dioxygenase type 1 [Gene - OMIM - HGNC]
CYSTM1:cysteine rich transmembrane module containing 1 [Gene - HGNC]
COX7C:cytochrome c oxidase subunit 7C [Gene - OMIM - HGNC]
DCP2:decapping mRNA 2 [Gene - OMIM - HGNC]
DCANP1:dendritic cell associated nuclear protein 1 [Gene - OMIM - HGNC]
DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]
DHFR:dihydrofolate reductase [Gene - OMIM - HGNC]
DPYSL3:dihydropyrimidinase like 3 [Gene - OMIM - HGNC]
DMGDH:dimethylglycine dehydrogenase [Gene - OMIM - HGNC]
PPIP5K2:diphosphoinositol pentakisphosphate kinase 2 [Gene - OMIM - HGNC]
DROSHA:drosha ribonuclease III [Gene - OMIM - HGNC]
EGR1:early growth response 1 [Gene - OMIM - HGNC]
ENC1:ectodermal-neural cortex 1 [Gene - OMIM - HGNC]
ELL2:elongation factor for RNA polymerase II 2 [Gene - OMIM - HGNC]
EMB:embigin [Gene - OMIM - HGNC]
ERAP1:endoplasmic reticulum aminopeptidase 1 [Gene - OMIM - HGNC]
ERAP2:endoplasmic reticulum aminopeptidase 2 [Gene - OMIM - HGNC]
ESM1:endothelial cell specific molecule 1 [Gene - OMIM - HGNC]
ECSCR:endothelial cell surface expressed chemotaxis and apoptosis regulator [Gene - OMIM - HGNC]
EFNA5:ephrin A5 [Gene - OMIM - HGNC]
ERBIN:erbb2 interacting protein [Gene - OMIM - HGNC]
EPB41L4A:erythrocyte membrane protein band 4.1 like 4A [Gene - OMIM - HGNC]
EIF4EBP3:eukaryotic translation initiation factor 4E binding protein 3 [Gene - OMIM - HGNC]
ETF1:eukaryotic translation termination factor 1 [Gene - OMIM - HGNC]
FAM13B:family with sequence similarity 13 member B [Gene - OMIM - HGNC]
FAM151B:family with sequence similarity 151 member B [Gene - HGNC]
FAM169A:family with sequence similarity 169 member A [Gene - OMIM - HGNC]
FAM170A:family with sequence similarity 170 member A [Gene - OMIM - HGNC]
FAM174A:family with sequence similarity 174 member A [Gene - HGNC]
FAM53C:family with sequence similarity 53 member C [Gene - OMIM - HGNC]
FAM81B:family with sequence similarity 81 member B [Gene - HGNC]
FEM1C:fem-1 homolog C [Gene - OMIM - HGNC]
FTMT:ferritin mitochondrial [Gene - OMIM - HGNC]
FBN2:fibrillin 2 [Gene - OMIM - HGNC]
FGF10:fibroblast growth factor 10 [Gene - OMIM - HGNC]
FGF1:fibroblast growth factor 1 [Gene - OMIM - HGNC]
FNIP1:folliculin interacting protein 1 [Gene - OMIM - HGNC]
FSTL4:follistatin like 4 [Gene - HGNC]
FST:follistatin [Gene - OMIM - HGNC]
FOXD1:forkhead box D1 [Gene - OMIM - HGNC]
GTF2H2:general transcription factor IIH subunit 2 [Gene - OMIM - HGNC]
GDNF:glial cell derived neurotrophic factor [Gene - OMIM - HGNC]
GNPDA1:glucosamine-6-phosphate deaminase 1 [Gene - OMIM - HGNC]
GCNT4:glucosaminyl (N-acetyl) transferase 4 [Gene - OMIM - HGNC]
GRXCR2:glutaredoxin and cysteine rich domain containing 2 [Gene - OMIM - HGNC]
GLRX:glutaredoxin [Gene - OMIM - HGNC]
GPX8:glutathione peroxidase 8 (putative) [Gene - OMIM - HGNC]
GOLPH3:golgi phosphoprotein 3 [Gene - OMIM - HGNC]
GZMA:granzyme A [Gene - OMIM - HGNC]
GZMK:granzyme K [Gene - OMIM - HGNC]
GDF9:growth differentiation factor 9 [Gene - OMIM - HGNC]
GHR:growth hormone receptor [Gene - OMIM - HGNC]
GIN1:gypsy retrotransposon integrase 1 [Gene - HGNC]
HSPA4:heat shock protein family A (Hsp70) member 4 [Gene - OMIM - HGNC]
HSPA9:heat shock protein family A (Hsp70) member 9 [Gene - OMIM - HGNC]
HSPB3:heat shock protein family B (small) member 3 [Gene - OMIM - HGNC]
HBEGF:heparin binding EGF like growth factor [Gene - OMIM - HGNC]
HNRNPA0:heterogeneous nuclear ribonucleoprotein A0 [Gene - OMIM - HGNC]
HEXB:hexosaminidase subunit beta [Gene - OMIM - HGNC]
HINT1:histidine triad nucleotide binding protein 1 [Gene - OMIM - HGNC]
HARS1:histidyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
HARS2:histidyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
HMHB1:histocompatibility minor HB-1 [Gene - OMIM - HGNC]
HDAC3:histone deacetylase 3 [Gene - OMIM - HGNC]
HOMER1:homer scaffold protein 1 [Gene - OMIM - HGNC]
HAPLN1:hyaluronan and proteoglycan link protein 1 [Gene - OMIM - HGNC]
HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
HCN1:hyperpolarization activated cyclic nucleotide gated potassium channel 1 [Gene - OMIM - HGNC]
IPO11:importin 11 [Gene - OMIM - HGNC]
ITGA1:integrin subunit alpha 1 [Gene - OMIM - HGNC]
ITGA2:integrin subunit alpha 2 [Gene - OMIM - HGNC]
IRF1:interferon regulatory factor 1 [Gene - OMIM - HGNC]
IL13:interleukin 13 [Gene - OMIM - HGNC]
IL17B:interleukin 17B [Gene - OMIM - HGNC]
IL31RA:interleukin 31 receptor A [Gene - OMIM - HGNC]
IL3:interleukin 3 [Gene - OMIM - HGNC]
IL4:interleukin 4 [Gene - OMIM - HGNC]
IL5:interleukin 5 [Gene - OMIM - HGNC]
IL6ST:interleukin 6 cytokine family signal transducer [Gene - OMIM - HGNC]
IL7R:interleukin 7 receptor [Gene - OMIM - HGNC]
IL9:interleukin 9 [Gene - OMIM - HGNC]
ISOC1:isochorismatase domain containing 1 [Gene - HGNC]
JADE2:jade family PHD finger 2 [Gene - OMIM - HGNC]
JAKMIP2:janus kinase and microtubule interacting protein 2 [Gene - OMIM - HGNC]
JMY:junction mediating and regulatory protein, p53 cofactor [Gene - OMIM - HGNC]
KLHL3:kelch like family member 3 [Gene - OMIM - HGNC]
KIF20A:kinesin family member 20A [Gene - OMIM - HGNC]
KIF2A:kinesin family member 2A [Gene - OMIM - HGNC]
KIF3A:kinesin family member 3A [Gene - OMIM - HGNC]
LVRN:laeverin [Gene - OMIM - HGNC]
LMNB1:lamin B1 [Gene - OMIM - HGNC]
LRRC70:leucine rich repeat containing 70 [Gene - HGNC]
LRRTM2:leucine rich repeat transmembrane neuronal 2 [Gene - OMIM - HGNC]
LNPEP:leucyl and cystinyl aminopeptidase [Gene - OMIM - HGNC]
LARS1:leucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
LECT2:leukocyte cell derived chemotaxin 2 [Gene - OMIM - HGNC]
LIX1:limb and CNS expressed 1 [Gene - OMIM - HGNC]
LEAP2:liver enriched antimicrobial peptide 2 [Gene - OMIM - HGNC]
LINC02899:long intergenic non-protein coding RNA 2899 [Gene - HGNC]
LUCAT1:lung cancer associated transcript 1 [Gene - OMIM - HGNC]
KDM3B:lysine demethylase 3B [Gene - OMIM - HGNC]
LOX:lysyl oxidase [Gene - OMIM - HGNC]
MACROH2A1:macroH2A.1 histone [Gene - OMIM - HGNC]
MACIR:macrophage immunometabolism regulator [Gene - OMIM - HGNC]
MROH2B:maestro heat like repeat family member 2B [Gene - HGNC]
MAN2A1:mannosidase alpha class 2A member 1 [Gene - OMIM - HGNC]
MZB1:marginal zone B and B1 cell specific protein [Gene - OMIM - HGNC]
MATR3:matrin 3 [Gene - OMIM - HGNC]
MARCHF11:membrane associated ring-CH-type finger 11 [Gene - OMIM - HGNC]
MARCHF3:membrane associated ring-CH-type finger 3 [Gene - OMIM - HGNC]
MINAR2:membrane integral NOTCH2 associated receptor 2 [Gene - OMIM - HGNC]
MBLAC2:metallo-beta-lactamase domain containing 2 [Gene - HGNC]
MTX3:metaxin 3 [Gene - OMIM - HGNC]
MCCC2:methylcrotonyl-CoA carboxylase subunit 2 [Gene - OMIM - HGNC]
MIR143:microRNA 143 [Gene - OMIM - HGNC]
MIR145:microRNA 145 [Gene - OMIM - HGNC]
MIR378A:microRNA 378a [Gene - OMIM - HGNC]
MIR449A:microRNA 449a [Gene - OMIM - HGNC]
MIR449B:microRNA 449b [Gene - OMIM - HGNC]
MIR9-2:microRNA 9-2 [Gene - OMIM - HGNC]
MAP1B:microtubule associated protein 1B [Gene - OMIM - HGNC]
MAST4:microtubule associated serine/threonine kinase family member 4 [Gene - OMIM - HGNC]
MRPS27:mitochondrial ribosomal protein S27 [Gene - OMIM - HGNC]
MRPS30:mitochondrial ribosomal protein S30 [Gene - OMIM - HGNC]
MAP3K1:mitogen-activated protein kinase kinase kinase 1 [Gene - OMIM - HGNC]
MOCS2:molybdenum cofactor synthesis 2 [Gene - OMIM - HGNC]
MCIDAS:multiciliate differentiation and DNA synthesis associated cell cycle protein [Gene - OMIM - HGNC]
MCTP1:multiple C2 and transmembrane domain containing 1 [Gene - OMIM - HGNC]
MEGF10:multiple EGF like domains 10 [Gene - OMIM - HGNC]
MSH3:mutS homolog 3 [Gene - OMIM - HGNC]
MEF2C:myocyte enhancer factor 2C [Gene - OMIM - HGNC]
MYO10:myosin X [Gene - OMIM - HGNC]
MYOT:myotilin [Gene - OMIM - HGNC]
MTMR12:myotubularin related protein 12 [Gene - OMIM - HGNC]
NPR3:natriuretic peptide receptor 3 [Gene - OMIM - HGNC]
NRG2:neuregulin 2 [Gene - OMIM - HGNC]
NEUROG1:neurogenin 1 [Gene - OMIM - HGNC]
NLN:neurolysin [Gene - OMIM - HGNC]
NREP:neuronal regeneration related protein [Gene - OMIM - HGNC]
NNT:nicotinamide nucleotide transhydrogenase [Gene - OMIM - HGNC]
NCRUPAR:non-protein coding RNA, upstream of F2R/PAR1 [Gene - HGNC]
NR2F1:nuclear receptor subfamily 2 group F member 1 [Gene - OMIM - HGNC]
NR3C1:nuclear receptor subfamily 3 group C member 1 [Gene - OMIM - HGNC]
NUP155:nucleoporin 155 [Gene - OMIM - HGNC]
NUDT12:nudix hydrolase 12 [Gene - OMIM - HGNC]
OCLN:occludin [Gene - OMIM - HGNC]
OSMR:oncostatin M receptor [Gene - OMIM - HGNC]
OTP:orthopedia homeobox [Gene - OMIM - HGNC]
PITX1:paired like homeodomain 1 [Gene - OMIM - HGNC]
PELO:pelota mRNA surveillance and ribosome rescue factor [Gene - OMIM - HGNC]
PTCD2:pentatricopeptide repeat domain 2 [Gene - OMIM - HGNC]
PAM:peptidylglycine alpha-amidating monooxygenase [Gene - OMIM - HGNC]
PPIC:peptidylprolyl isomerase C [Gene - OMIM - HGNC]
PPWD1:peptidylprolyl isomerase domain and WD repeat containing 1 [Gene - OMIM - HGNC]
PLCXD3:phosphatidylinositol specific phospholipase C X domain containing 3 [Gene - OMIM - HGNC]
PDE4D:phosphodiesterase 4D [Gene - OMIM - HGNC]
PDE6A:phosphodiesterase 6A [Gene - OMIM - HGNC]
PDE8B:phosphodiesterase 8B [Gene - OMIM - HGNC]
PIK3R1:phosphoinositide-3-kinase regulatory subunit 1 [Gene - OMIM - HGNC]
PLPP1:phospholipid phosphatase 1 [Gene - OMIM - HGNC]
PHAX:phosphorylated adaptor for RNA export [Gene - OMIM - HGNC]
PDGFRB:platelet derived growth factor receptor beta [Gene - OMIM - HGNC]
PSD2:pleckstrin and Sec7 domain containing 2 [Gene - HGNC]
PLK2:polo like kinase 2 [Gene - OMIM - HGNC]
PAIP1:poly(A) binding protein interacting protein 1 [Gene - OMIM - HGNC]
PAIP2:poly(A) binding protein interacting protein 2 [Gene - OMIM - HGNC]
PARP8:poly(ADP-ribose) polymerase family member 8 [Gene - HGNC]
PKD2L2:polycystin 2 like 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
KCNN2:potassium calcium-activated channel subfamily N member 2 [Gene - OMIM - HGNC]
KCTD16:potassium channel tetramerization domain containing 16 [Gene - OMIM - HGNC]
PJA2:praja ring finger ubiquitin ligase 2 [Gene - OMIM - HGNC]
PFDN1:prefoldin subunit 1 [Gene - OMIM - HGNC]
PCYOX1L:prenylcysteine oxidase 1 like [Gene - HGNC]
PRLR:prolactin receptor [Gene - OMIM - HGNC]
PRR16:proline rich 16 [Gene - OMIM - HGNC]
PROB1:proline rich basic protein 1 [Gene - HGNC]
PRRC1:proline rich coiled-coil 1 [Gene - HGNC]
P4HA2:prolyl 4-hydroxylase subunit alpha 2 [Gene - OMIM - HGNC]
PCSK1:proprotein convertase subtilisin/kexin type 1 [Gene - OMIM - HGNC]
PTGER4:prostaglandin E receptor 4 [Gene - OMIM - HGNC]
PART1:prostate androgen-regulated transcript 1 [Gene - OMIM - HGNC]
PGGT1B:protein geranylgeranyltransferase type I subunit beta [Gene - OMIM - HGNC]
PRKAA1:protein kinase AMP-activated catalytic subunit alpha 1 [Gene - OMIM - HGNC]
PPP2CA:protein phosphatase 2 catalytic subunit alpha [Gene - OMIM - HGNC]
PPP2R2B:protein phosphatase 2 regulatory subunit Bbeta [Gene - OMIM - HGNC]
PCDH12:protocadherin 12 [Gene - OMIM - HGNC]
PCDH1:protocadherin 1 [Gene - OMIM - HGNC]
PCDHA10:protocadherin alpha 10 [Gene - OMIM - HGNC]
PCDHA11:protocadherin alpha 11 [Gene - OMIM - HGNC]
PCDHA12:protocadherin alpha 12 [Gene - OMIM - HGNC]
PCDHA13:protocadherin alpha 13 [Gene - OMIM - HGNC]
PCDHA1:protocadherin alpha 1 [Gene - OMIM - HGNC]
PCDHA2:protocadherin alpha 2 [Gene - OMIM - HGNC]
PCDHA3:protocadherin alpha 3 [Gene - OMIM - HGNC]
PCDHA4:protocadherin alpha 4 [Gene - OMIM - HGNC]
PCDHA5:protocadherin alpha 5 [Gene - OMIM - HGNC]
PCDHA6:protocadherin alpha 6 [Gene - OMIM - HGNC]
PCDHA7:protocadherin alpha 7 [Gene - OMIM - HGNC]
PCDHA8:protocadherin alpha 8 [Gene - OMIM - HGNC]
PCDHA9:protocadherin alpha 9 [Gene - OMIM - HGNC]
PCDHA@:protocadherin alpha cluster, complex locus [Gene - OMIM - HGNC]
PCDHAC1:protocadherin alpha subfamily C, 1 [Gene - OMIM - HGNC]
PCDHAC2:protocadherin alpha subfamily C, 2 [Gene - OMIM - HGNC]
PCDHB10:protocadherin beta 10 [Gene - OMIM - HGNC]
PCDHB11:protocadherin beta 11 [Gene - OMIM - HGNC]
PCDHB12:protocadherin beta 12 [Gene - OMIM - HGNC]
PCDHB13:protocadherin beta 13 [Gene - OMIM - HGNC]
PCDHB14:protocadherin beta 14 [Gene - OMIM - HGNC]
PCDHB15:protocadherin beta 15 [Gene - OMIM - HGNC]
PCDHB16:protocadherin beta 16 [Gene - OMIM - HGNC]
PCDHB1:protocadherin beta 1 [Gene - OMIM - HGNC]
PCDHB2:protocadherin beta 2 [Gene - OMIM - HGNC]
PCDHB3:protocadherin beta 3 [Gene - OMIM - HGNC]
PCDHB4:protocadherin beta 4 [Gene - OMIM - HGNC]
PCDHB5:protocadherin beta 5 [Gene - OMIM - HGNC]
PCDHB6:protocadherin beta 6 [Gene - OMIM - HGNC]
PCDHB7:protocadherin beta 7 [Gene - OMIM - HGNC]
PCDHB8:protocadherin beta 8 [Gene - OMIM - HGNC]
PCDHB9:protocadherin beta 9 [Gene - OMIM - HGNC]
PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]
PCDHGA10:protocadherin gamma subfamily A, 10 [Gene - OMIM - HGNC]
PCDHGA11:protocadherin gamma subfamily A, 11 [Gene - OMIM - HGNC]
PCDHGA12:protocadherin gamma subfamily A, 12 [Gene - OMIM - HGNC]
PCDHGA1:protocadherin gamma subfamily A, 1 [Gene - OMIM - HGNC]
PCDHGA2:protocadherin gamma subfamily A, 2 [Gene - OMIM - HGNC]
PCDHGA3:protocadherin gamma subfamily A, 3 [Gene - OMIM - HGNC]
PCDHGA4:protocadherin gamma subfamily A, 4 [Gene - OMIM - HGNC]
PCDHGA5:protocadherin gamma subfamily A, 5 [Gene - OMIM - HGNC]
PCDHGA6:protocadherin gamma subfamily A, 6 [Gene - OMIM - HGNC]
PCDHGA7:protocadherin gamma subfamily A, 7 [Gene - OMIM - HGNC]
PCDHGA8:protocadherin gamma subfamily A, 8 [Gene - OMIM - HGNC]
PCDHGA9:protocadherin gamma subfamily A, 9 [Gene - OMIM - HGNC]
PCDHGB1:protocadherin gamma subfamily B, 1 [Gene - OMIM - HGNC]
PCDHGB2:protocadherin gamma subfamily B, 2 [Gene - OMIM - HGNC]
PCDHGB3:protocadherin gamma subfamily B, 3 [Gene - OMIM - HGNC]
PCDHGB4:protocadherin gamma subfamily B, 4 [Gene - OMIM - HGNC]
PCDHGB5:protocadherin gamma subfamily B, 5 [Gene - OMIM - HGNC]
PCDHGB6:protocadherin gamma subfamily B, 6 [Gene - OMIM - HGNC]
PCDHGB7:protocadherin gamma subfamily B, 7 [Gene - OMIM - HGNC]
PCDHGC3:protocadherin gamma subfamily C, 3 [Gene - OMIM - HGNC]
PCDHGC4:protocadherin gamma subfamily C, 4 [Gene - OMIM - HGNC]
PCDHGC5:protocadherin gamma subfamily C, 5 [Gene - OMIM - HGNC]
PCBD2:pterin-4 alpha-carbinolamine dehydratase 2 [Gene - OMIM - HGNC]
PURA:purine rich element binding protein A [Gene - OMIM - HGNC]
REEP2:receptor accessory protein 2 [Gene - OMIM - HGNC]
REEP5:receptor accessory protein 5 [Gene - OMIM - HGNC]
RGS7BP:regulator of G protein signaling 7 binding protein [Gene - OMIM - HGNC]
RXFP3:relaxin family peptide receptor 3 [Gene - OMIM - HGNC]
RGMB:repulsive guidance molecule BMP co-receptor b [Gene - OMIM - HGNC]
RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]
RAI14:retinoic acid induced 14 [Gene - OMIM - HGNC]
RPL37:ribosomal protein L37 [Gene - OMIM - HGNC]
RPS23:ribosomal protein S23 [Gene - OMIM - HGNC]
RNF14:ring finger protein 14 [Gene - OMIM - HGNC]
RNF180:ring finger protein 180 [Gene - OMIM - HGNC]
SAR1B:secretion associated Ras related GTPase 1B [Gene - OMIM - HGNC]
SCGB3A2:secretoglobin family 3A member 2 [Gene - OMIM - HGNC]
SCAMP1:secretory carrier membrane protein 1 [Gene - OMIM - HGNC]
SELENOP:selenoprotein P [Gene - OMIM - HGNC]
SEMA6A:semaphorin 6A [Gene - OMIM - HGNC]
SEPTIN8:septin 8 [Gene - OMIM - HGNC]
SERINC5:serine incorporator 5 [Gene - OMIM - HGNC]
SPINK13:serine peptidase inhibitor Kazal type 13 [Gene - OMIM - HGNC]
SPINK14:serine peptidase inhibitor Kazal type 14 (putative) [Gene - HGNC]
SPINK1:serine peptidase inhibitor Kazal type 1 [Gene - OMIM - HGNC]
SPINK5:serine peptidase inhibitor Kazal type 5 [Gene - OMIM - HGNC]
SPINK6:serine peptidase inhibitor Kazal type 6 [Gene - OMIM - HGNC]
SPINK7:serine peptidase inhibitor Kazal type 7 [Gene - OMIM - HGNC]
SPINK9:serine peptidase inhibitor Kazal type 9 [Gene - OMIM - HGNC]
STK32A:serine/threonine kinase 32A [Gene - HGNC]
SRFBP1:serum response factor binding protein 1 [Gene - OMIM - HGNC]
SHISAL2B:shisa like 2B [Gene - OMIM - HGNC]
SHROOM1:shroom family member 1 [Gene - OMIM - HGNC]
SRP19:signal recognition particle 19 [Gene - OMIM - HGNC]
SSBP2:single stranded DNA binding protein 2 [Gene - OMIM - HGNC]
SCARNA18:small Cajal body-specific RNA 18 [Gene - OMIM - HGNC]
SERF1A:small EDRK-rich factor 1A [Gene - OMIM - HGNC]
SERF1B:small EDRK-rich factor 1B [Gene - HGNC]
SGTB:small glutamine rich tetratricopeptide repeat co-chaperone beta [Gene - OMIM - HGNC]
SMIM15:small integral membrane protein 15 [Gene - HGNC]
SNHG4:small nucleolar RNA host gene 4 [Gene - HGNC]
SLC1A3:solute carrier family 1 member 3 [Gene - OMIM - HGNC]
SLC12A2:solute carrier family 12 member 2 [Gene - OMIM - HGNC]
SLC22A4:solute carrier family 22 member 4 [Gene - OMIM - HGNC]
SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]
SLC23A1:solute carrier family 23 member 1 [Gene - OMIM - HGNC]
SLC25A2:solute carrier family 25 member 2 [Gene - OMIM - HGNC]
SLC25A46:solute carrier family 25 member 46 [Gene - OMIM - HGNC]
SLC25A48:solute carrier family 25 member 48 [Gene - OMIM - HGNC]
SLC26A2:solute carrier family 26 member 2 [Gene - OMIM - HGNC]
SLC27A6:solute carrier family 27 member 6 [Gene - OMIM - HGNC]
SLC30A5:solute carrier family 30 member 5 [Gene - OMIM - HGNC]
SLC35A4:solute carrier family 35 member A4 [Gene - OMIM - HGNC]
SLC38A9:solute carrier family 38 member 9 [Gene - OMIM - HGNC]
SLC4A9:solute carrier family 4 member 9 [Gene - OMIM - HGNC]
SLC45A2:solute carrier family 45 member 2 [Gene - OMIM - HGNC]
SLCO4C1:solute carrier organic anion transporter family member 4C1 [Gene - OMIM - HGNC]
SLCO6A1:solute carrier organic anion transporter family member 6A1 [Gene - OMIM - HGNC]
SNX18:sorting nexin 18 [Gene - HGNC]
SNX24:sorting nexin 24 [Gene - HGNC]
SNX2:sorting nexin 2 [Gene - OMIM - HGNC]
SOWAHA:sosondowah ankyrin repeat domain family member A [Gene - HGNC]
SPEF2:sperm flagellar 2 [Gene - OMIM - HGNC]
SPMIP10:sperm microtubule inner protein 10 [Gene - HGNC]
SPATA24:spermatogenesis associated 24 [Gene - HGNC]
SPATA9:spermatogenesis associated 9 [Gene - OMIM - HGNC]
SPZ1:spermatogenic leucine zipper 1 [Gene - OMIM - HGNC]
SREK1:splicing regulatory glutamic acid and lysine rich protein 1 [Gene - OMIM - HGNC]
SPRY4:sprouty RTK signaling antagonist 4 [Gene - OMIM - HGNC]
SRA1:steroid receptor RNA activator 1 [Gene - OMIM - HGNC]
STING1:stimulator of interferon response cGAMP interactor 1 [Gene - OMIM - HGNC]
SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]
SMN2:survival of motor neuron 2, centromeric [Gene - OMIM - HGNC]
SV2C:synaptic vesicle glycoprotein 2C [Gene - OMIM - HGNC]
SNCAIP:synuclein alpha interacting protein [Gene - OMIM - HGNC]
TENT2:terminal nucleotidyltransferase 2 [Gene - OMIM - HGNC]
TSSK1B:testis specific serine kinase 1B [Gene - OMIM - HGNC]
TTC23L:tetratricopeptide repeat domain 23 like [Gene - OMIM - HGNC]
TTC33:tetratricopeptide repeat domain 33 [Gene - HGNC]
TXNDC15:thioredoxin domain containing 15 [Gene - OMIM - HGNC]
TARS1:threonyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
THBS4:thrombospondin 4 [Gene - OMIM - HGNC]
TSLP:thymic stromal lymphopoietin [Gene - OMIM - HGNC]
TIGD6:tigger transposable element derived 6 [Gene - HGNC]
TRAPPC13:trafficking protein particle complex subunit 13 [Gene - HGNC]
TCERG1:transcription elongation regulator 1 [Gene - OMIM - HGNC]
TCF7:transcription factor 7 [Gene - OMIM - HGNC]
TGFBI:transforming growth factor beta induced [Gene - OMIM - HGNC]
TRPC7:transient receptor potential cation channel subfamily C member 7 [Gene - HGNC]
TMCO6:transmembrane and coiled-coil domains 6 [Gene - HGNC]
TMED7:transmembrane p24 trafficking protein 7 [Gene - OMIM - HGNC]
TMEM161B:transmembrane protein 161B [Gene - HGNC]
TMEM167A:transmembrane protein 167A [Gene - OMIM - HGNC]
TMEM171:transmembrane protein 171 [Gene - HGNC]
TMEM174:transmembrane protein 174 [Gene - OMIM - HGNC]
TMEM232:transmembrane protein 232 [Gene - OMIM - HGNC]
TMEM267:transmembrane protein 267 [Gene - HGNC]
TNPO1:transportin 1 [Gene - OMIM - HGNC]
TRIM23:tripartite motif containing 23 [Gene - OMIM - HGNC]
TRIM36:tripartite motif containing 36 [Gene - OMIM - HGNC]
TBCA:tubulin folding cofactor A [Gene - OMIM - HGNC]
UQCRQ:ubiquinol-cytochrome c reductase complex III subunit VII [Gene - OMIM - HGNC]
UBE2B:ubiquitin conjugating enzyme E2 B [Gene - OMIM - HGNC]
UBE2D2:ubiquitin conjugating enzyme E2 D2 [Gene - OMIM - HGNC]
VTRNA1-1:vault RNA 1-1 [Gene - OMIM - HGNC]
VTRNA1-2:vault RNA 1-2 [Gene - OMIM - HGNC]
VTRNA1-3:vault RNA 1-3 [Gene - OMIM - HGNC]
VTRNA2-1:vault RNA 2-1 [Gene - OMIM - HGNC]
VCAN:versican [Gene - OMIM - HGNC]
VDAC1:voltage dependent anion channel 1 [Gene - OMIM - HGNC]
ZBED3:zinc finger BED-type containing 3 [Gene - OMIM - HGNC]
ZCCHC10:zinc finger CCHC-type containing 10 [Gene - HGNC]
ZCCHC9:zinc finger CCHC-type containing 9 [Gene - OMIM - HGNC]
ZFYVE16:zinc finger FYVE-type containing 16 [Gene - OMIM - HGNC]
ZFR:zinc finger RNA binding protein [Gene - OMIM - HGNC]
ZSWIM6:zinc finger SWIM-type containing 6 [Gene - OMIM - HGNC]
ZMAT2:zinc finger matrin-type 2 [Gene - OMIM - HGNC]
ZNF131:zinc finger protein 131 [Gene - OMIM - HGNC]
ZNF366:zinc finger protein 366 [Gene - OMIM - HGNC]
ZNF474:zinc finger protein 474 [Gene - HGNC]
ZNF608:zinc finger protein 608 [Gene - HGNC]
ZNF622:zinc finger protein 622 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5p15.2-q32

Genomic location:

Chr5: 14685137 - 149511942 (on Assembly GRCh37)

HGVS:

NC_000005.9:g.14685137_149511942del

Condition(s)

Name:: Neurodevelopmental disorder
Identifiers:: MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926398	Rare Disease Group, Clinical Genetics, Karolinska Institutet	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 9, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926398

Rare Disease Group, Clinical Genetics, Karolinska Institutet

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 9, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Rare Disease Group, Clinical Genetics, Karolinska Institutet, SCV000926398.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine