GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) AND Turner syndrome
- 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:
- RCV002280671.1
Allele description [Variation Report for GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)]
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)
- Genes:
- ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
- PFKFB1:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Gene - OMIM - HGNC]
- ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
- AKAP4:A-kinase anchoring protein 4 [Gene - OMIM - HGNC]
- ARSD-AS1:ARSD antisense RNA 1 [Gene - HGNC]
- ATP6AP2:ATPase H+ transporting accessory protein 2 [Gene - OMIM - HGNC]
- BCOR:BCL6 corepressor [Gene - OMIM - HGNC]
- BCLAF3:BCLAF1 and THRAP3 family member 3 [Gene - HGNC]
- BEND2:BEN domain containing 2 [Gene - HGNC]
- BMX:BMX non-receptor tyrosine kinase [Gene - OMIM - HGNC]
- CTPS2:CTP synthase 2 [Gene - OMIM - HGNC]
- CBLL2:Cbl proto-oncogene like 2 [Gene - HGNC]
- DCAF8L1:DDB1 and CUL4 associated factor 8 like 1 [Gene - HGNC]
- DCAF8L2:DDB1 and CUL4 associated factor 8 like 2 [Gene - HGNC]
- DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - HGNC]
- DDX53:DEAD-box helicase 53 [Gene - OMIM - HGNC]
- POLA1:DNA polymerase alpha 1, catalytic subunit [Gene - OMIM - HGNC]
- EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]
- EFHC2:EF-hand domain containing 2 [Gene - OMIM - HGNC]
- EGFL6:EGF like domain multiple 6 [Gene - OMIM - HGNC]
- ERAS:ES cell expressed Ras [Gene - OMIM - HGNC]
- ELK1:ETS transcription factor ELK1 [Gene - OMIM - HGNC]
- FANCB:FA complementation group B [Gene - OMIM - HGNC]
- FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]
- FUNDC1:FUN14 domain containing 1 [Gene - OMIM - HGNC]
- FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
- FTSJ1:FtsJ RNA 2'-O-methyltransferase 1 [Gene - OMIM - HGNC]
- GAGE12B:G antigen 12B [Gene - HGNC]
- GAGE12C:G antigen 12C [Gene - OMIM - HGNC]
- GAGE12D:G antigen 12D [Gene - OMIM - HGNC]
- GAGE12E:G antigen 12E [Gene - OMIM - HGNC]
- GAGE12F:G antigen 12F [Gene - OMIM - HGNC]
- GAGE12G:G antigen 12G [Gene - OMIM - HGNC]
- GAGE12H:G antigen 12H [Gene - OMIM - HGNC]
- GAGE12I:G antigen 12I [Gene - OMIM - HGNC]
- GAGE12J:G antigen 12J [Gene - OMIM - HGNC]
- GAGE13:G antigen 13 [Gene - OMIM - HGNC]
- GAGE1:G antigen 1 [Gene - OMIM - HGNC]
- GAGE2A:G antigen 2A [Gene - OMIM - HGNC]
- GAGE2B:G antigen 2B [Gene - OMIM - HGNC]
- GAGE2C:G antigen 2C [Gene - OMIM - HGNC]
- GAGE2D:G antigen 2D [Gene - OMIM - HGNC]
- GAGE2E:G antigen 2E [Gene - OMIM - HGNC]
- GAGE8:G antigen 8 [Gene - OMIM - HGNC]
- GNL3L:G protein nucleolar 3 like [Gene - OMIM - HGNC]
- GPR143:G protein-coupled receptor 143 [Gene - OMIM - HGNC]
- GPR173:G protein-coupled receptor 173 [Gene - OMIM - HGNC]
- GPR34:G protein-coupled receptor 34 [Gene - OMIM - HGNC]
- GPR82:G protein-coupled receptor 82 [Gene - OMIM - HGNC]
- GPKOW:G-patch domain and KOW motifs [Gene - OMIM - HGNC]
- GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]
- GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
- GRIPAP1:GRIP1 associated protein 1 [Gene - OMIM - HGNC]
- H2AP:H2A.P histone [Gene - HGNC]
- HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
- IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
- KLF8:KLF transcription factor 8 [Gene - OMIM - HGNC]
- KRBOX4:KRAB box domain containing 4 [Gene - OMIM - HGNC]
- LANCL3:LanC like family member 3 [Gene - HGNC]
- MAGEB10:MAGE family member B10 [Gene - OMIM - HGNC]
- MAGEB16:MAGE family member B16 [Gene - OMIM - HGNC]
- MAGEB17:MAGE family member B17 [Gene - OMIM - HGNC]
- MAGEB18:MAGE family member B18 [Gene - OMIM - HGNC]
- MAGEB1:MAGE family member B1 [Gene - OMIM - HGNC]
- MAGEB2:MAGE family member B2 [Gene - OMIM - HGNC]
- MAGEB3:MAGE family member B3 [Gene - OMIM - HGNC]
- MAGEB4:MAGE family member B4 [Gene - OMIM - HGNC]
- MAGEB5:MAGE family member B5 [Gene - OMIM - HGNC]
- MAGEB6:MAGE family member B6 [Gene - OMIM - HGNC]
- MAGED1:MAGE family member D1 [Gene - OMIM - HGNC]
- MAGED2:MAGE family member D2 [Gene - OMIM - HGNC]
- MAGED4:MAGE family member D4 [Gene - OMIM - HGNC]
- MAGED4B:MAGE family member D4B [Gene - OMIM - HGNC]
- MAGEH1:MAGE family member H1 [Gene - OMIM - HGNC]
- MAGIX:MAGI family member, X-linked [Gene - HGNC]
- MAP7D2:MAP7 domain containing 2 [Gene - HGNC]
- MID1IP1:MID1 interacting protein 1 [Gene - OMIM - HGNC]
- MSL3:MSL complex subunit 3 [Gene - OMIM - HGNC]
- MTRNR2L10:MT-RNR2 like 10 [Gene - HGNC]
- NDUFB11:NADH:ubiquinone oxidoreductase subunit B11 [Gene - OMIM - HGNC]
- NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
- OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
- OTUD5:OTU deubiquitinase 5 [Gene - OMIM - HGNC]
- PAGE1:PAGE family member 1 [Gene - OMIM - HGNC]
- PAGE2:PAGE family member 2 [Gene - OMIM - HGNC]
- PAGE2B:PAGE family member 2B [Gene - HGNC]
- PAGE3:PAGE family member 3 [Gene - OMIM - HGNC]
- PAGE4:PAGE family member 4 [Gene - OMIM - HGNC]
- PAGE5:PAGE family member 5 [Gene - OMIM - HGNC]
- PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
- PRAF2:PRA1 domain family member 2 [Gene - OMIM - HGNC]
- PIM2:Pim-2 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
- RAB9A:RAB9A, member RAS oncogene family [Gene - OMIM - HGNC]
- REPS2:RALBP1 associated Eps domain containing 2 [Gene - OMIM - HGNC]
- RBBP7:RB binding protein 7, chromatin remodeling factor [Gene - OMIM - HGNC]
- RIBC1:RIB43A domain with coiled-coils 1 [Gene - HGNC]
- RBM10:RNA binding motif protein 10 [Gene - OMIM - HGNC]
- RBM3:RNA binding motif protein 3 [Gene - OMIM - HGNC]
- RP2:RP2 activator of ARL3 GTPase [Gene - OMIM - HGNC]
- RRAGB:Ras related GTP binding B [Gene - OMIM - HGNC]
- ARHGAP6:Rho GTPase activating protein 6 [Gene - OMIM - HGNC]
- S100G:S100 calcium binding protein G [Gene - OMIM - HGNC]
- SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]
- SPANXN5:SPANX family member N5 [Gene - OMIM - HGNC]
- SSX1:SSX family member 1 [Gene - OMIM - HGNC]
- SSX2:SSX family member 2 [Gene - OMIM - HGNC]
- SSX2B:SSX family member 2B [Gene - HGNC]
- SSX3:SSX family member 3 [Gene - OMIM - HGNC]
- SSX4:SSX family member 4 [Gene - OMIM - HGNC]
- SSX4B:SSX family member 4B [Gene - HGNC]
- SSX5:SSX family member 5 [Gene - OMIM - HGNC]
- SSX7:SSX family member 7 [Gene - OMIM - HGNC]
- SUPT20HL1:SUPT20H like 1 [Gene - HGNC]
- SUPT20HL2:SUPT20H like 2 [Gene - HGNC]
- SUV39H1:SUV39H1 histone lysine methyltransferase [Gene - OMIM - HGNC]
- SCML1:Scm polycomb group protein like 1 [Gene - OMIM - HGNC]
- SCML2:Scm polycomb group protein like 2 [Gene - OMIM - HGNC]
- TBC1D25:TBC1 domain family member 25 [Gene - OMIM - HGNC]
- TAB3:TGF-beta activated kinase 1 (MAP3K7) binding protein 3 [Gene - OMIM - HGNC]
- TIMP1:TIMP metallopeptidase inhibitor 1 [Gene - OMIM - HGNC]
- TASL:TLR adaptor interacting with endolysosomal SLC15A4 [Gene - OMIM - HGNC]
- TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
- TSR2:TSR2 ribosome maturation factor [Gene - OMIM - HGNC]
- WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
- WDR13:WD repeat domain 13 [Gene - OMIM - HGNC]
- WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]
- WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]
- WWC3:WWC family member 3 [Gene - OMIM - HGNC]
- XAGE1A:X antigen family member 1A [Gene - OMIM - HGNC]
- XAGE1B:X antigen family member 1B [Gene - OMIM - HGNC]
- XAGE2:X antigen family member 2 [Gene - OMIM - HGNC]
- XAGE3:X antigen family member 3 [Gene - OMIM - HGNC]
- XAGE5:X antigen family member 5 [Gene - OMIM - HGNC]
- XK:X-linked Kx blood group antigen, Kell and VPS13A binding protein [Gene - OMIM - HGNC]
- XG:Xg glycoprotein (Xg blood group) [Gene - OMIM - HGNC]
- YY2:YY2 transcription factor [Gene - OMIM - HGNC]
- ACOT9:acyl-CoA thioesterase 9 [Gene - OMIM - HGNC]
- AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]
- ADGRG2:adhesion G protein-coupled receptor G2 [Gene - OMIM - HGNC]
- AMELX:amelogenin X-linked [Gene - OMIM - HGNC]
- ACE2:angiotensin converting enzyme 2 [Gene - OMIM - HGNC]
- ASB11:ankyrin repeat and SOCS box containing 11 [Gene - OMIM - HGNC]
- ASB9:ankyrin repeat and SOCS box containing 9 [Gene - OMIM - HGNC]
- ANOS1:anosmin 1 [Gene - OMIM - HGNC]
- APOO:apolipoprotein O [Gene - OMIM - HGNC]
- APEX2:apurinic/apyrimidinic endodeoxyribonuclease 2 [Gene - OMIM - HGNC]
- ARX:aristaless related homeobox [Gene - OMIM - HGNC]
- ARSD:arylsulfatase D [Gene - OMIM - HGNC]
- ARSF:arylsulfatase F [Gene - OMIM - HGNC]
- ARSL:arylsulfatase L [Gene - OMIM - HGNC]
- ARSH:arylsulfatase family member H [Gene - OMIM - HGNC]
- ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
- BMP15:bone morphogenetic protein 15 [Gene - OMIM - HGNC]
- CACNA1F:calcium voltage-gated channel subunit alpha1 F [Gene - OMIM - HGNC]
- CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]
- CHST7:carbohydrate sulfotransferase 7 [Gene - OMIM - HGNC]
- CA5B:carbonic anhydrase 5B [Gene - OMIM - HGNC]
- CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]
- CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
- CXorf22:chromosome X open reading frame 22 [Gene]
- CXorf30:chromosome X open reading frame 30 [Gene]
- CXorf38:chromosome X open reading frame 38 [Gene - HGNC]
- CXorf58:chromosome X open reading frame 58 [Gene - HGNC]
- CFAP47:cilia and flagella associated protein 47 [Gene - OMIM - HGNC]
- CCDC120:coiled-coil domain containing 120 [Gene - OMIM - HGNC]
- CCDC22:coiled-coil domain containing 22 [Gene - OMIM - HGNC]
- CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
- CFP:complement factor properdin [Gene - OMIM - HGNC]
- CNKSR2:connector enhancer of kinase suppressor of Ras 2 [Gene - OMIM - HGNC]
- CCNB3:cyclin B3 [Gene - OMIM - HGNC]
- CDK16:cyclin dependent kinase 16 [Gene - OMIM - HGNC]
- CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
- CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
- DGKK:diacylglycerol kinase kappa [Gene - OMIM - HGNC]
- DIPK2B:divergent protein kinase domain 2B [Gene - OMIM - HGNC]
- DUSP21:dual specificity phosphatase 21 [Gene - OMIM - HGNC]
- DYNLT3:dynein light chain Tctex-type 3 [Gene - OMIM - HGNC]
- DMD:dystrophin [Gene - OMIM - HGNC]
- EIF1AX:eukaryotic translation initiation factor 1A X-linked [Gene - OMIM - HGNC]
- EIF2S3:eukaryotic translation initiation factor 2 subunit gamma [Gene - OMIM - HGNC]
- FAM104B:family with sequence similarity 104 member B [Gene - HGNC]
- FAM120C:family with sequence similarity 120C [Gene - OMIM - HGNC]
- FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
- FAM156B:family with sequence similarity 156 member B [Gene - HGNC]
- FAM47A:family with sequence similarity 47 member A [Gene - HGNC]
- FAM47B:family with sequence similarity 47 member B [Gene - HGNC]
- FAM47C:family with sequence similarity 47 member C [Gene - OMIM - HGNC]
- FAM9A:family with sequence similarity 9 member A [Gene - OMIM - HGNC]
- FAM9B:family with sequence similarity 9 member B [Gene - OMIM - HGNC]
- FAM9C:family with sequence similarity 9 member C [Gene - OMIM - HGNC]
- FAAH2:fatty acid amide hydrolase 2 [Gene - OMIM - HGNC]
- FTHL17:ferritin heavy chain like 17 [Gene - OMIM - HGNC]
- FOXP3:forkhead box P3 [Gene - OMIM - HGNC]
- FOXR2:forkhead box R2 [Gene - OMIM - HGNC]
- GRPR:gastrin releasing peptide receptor [Gene - OMIM - HGNC]
- GEMIN8:gem nuclear organelle associated protein 8 [Gene - OMIM - HGNC]
- GK:glycerol kinase [Gene - OMIM - HGNC]
- GLRA2:glycine receptor alpha 2 [Gene - OMIM - HGNC]
- GYG2:glycogenin 2 [Gene - OMIM - HGNC]
- GPM6B:glycoprotein M6B [Gene - OMIM - HGNC]
- GLOD5:glyoxalase domain containing 5 [Gene - HGNC]
- HDAC6:histone deacetylase 6 [Gene - OMIM - HGNC]
- HCCS:holocytochrome c synthase [Gene - OMIM - HGNC]
- HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
- INE1:inactivation escape 1 [Gene - OMIM - HGNC]
- INE2:inactivation escape 2 [Gene - OMIM - HGNC]
- ITIH6:inter-alpha-trypsin inhibitor heavy chain family member 6 [Gene - HGNC]
- IL1RAPL1:interleukin 1 receptor accessory protein like 1 [Gene - OMIM - HGNC]
- JADE3:jade family PHD finger 3 [Gene - OMIM - HGNC]
- KLHL15:kelch like family member 15 [Gene - OMIM - HGNC]
- KLHL34:kelch like family member 34 [Gene - HGNC]
- LINC01560:long intergenic non-protein coding RNA 1560 [Gene - HGNC]
- KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
- KDM6A:lysine demethylase 6A [Gene - OMIM - HGNC]
- MXRA5:matrix remodeling associated 5 [Gene - OMIM - HGNC]
- MED14:mediator complex subunit 14 [Gene - OMIM - HGNC]
- MBTPS2:membrane bound transcription factor peptidase, site 2 [Gene - OMIM - HGNC]
- MIR221:microRNA 221 [Gene - OMIM - HGNC]
- MIR222:microRNA 222 [Gene - OMIM - HGNC]
- MIR502:microRNA 502 [Gene - OMIM - HGNC]
- MIR532:microRNA 532 [Gene - OMIM - HGNC]
- MIR98:microRNA 98 [Gene - OMIM - HGNC]
- MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
- MID1:midline 1 [Gene - OMIM - HGNC]
- MPC1L:mitochondrial pyruvate carrier 1 like [Gene - HGNC]
- MAP3K15:mitogen-activated protein kinase kinase kinase 15 [Gene - OMIM - HGNC]
- MAOA:monoamine oxidase A [Gene - OMIM - HGNC]
- MAOB:monoamine oxidase B [Gene - OMIM - HGNC]
- MOSPD2:motile sperm domain containing 2 [Gene - OMIM - HGNC]
- NLGN4X:neuroligin 4 X-linked [Gene - OMIM - HGNC]
- NDP:norrin cystine knot growth factor NDP [Gene - OMIM - HGNC]
- NR0B1:nuclear receptor subfamily 0 group B member 1 [Gene - OMIM - HGNC]
- NUDT10:nudix hydrolase 10 [Gene - OMIM - HGNC]
- NUDT11:nudix hydrolase 11 [Gene - OMIM - HGNC]
- NYX:nyctalopin [Gene - OMIM - HGNC]
- OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
- PNPLA4:patatin like phospholipase domain containing 4 [Gene - OMIM - HGNC]
- PTCHD1:patched domain containing 1 [Gene - OMIM - HGNC]
- PRDX4:peroxiredoxin 4 [Gene - OMIM - HGNC]
- PCYT1B:phosphate cytidylyltransferase 1B, choline [Gene - OMIM - HGNC]
- PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]
- PIGA:phosphatidylinositol glycan anchor biosynthesis class A [Gene - OMIM - HGNC]
- PRPS2:phosphoribosyl pyrophosphate synthetase 2 [Gene - OMIM - HGNC]
- PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]
- PIR:pirin [Gene - OMIM - HGNC]
- PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]
- PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]
- KCND1:potassium voltage-gated channel subfamily D member 1 [Gene - OMIM - HGNC]
- PRICKLE3:prickle planar cell polarity protein 3 [Gene - OMIM - HGNC]
- PRRG1:proline rich and Gla domain 1 [Gene - OMIM - HGNC]
- PCSK1N:proprotein convertase subtilisin/kexin type 1 inhibitor [Gene - OMIM - HGNC]
- PRKX:protein kinase cAMP-dependent X-linked catalytic subunit [Gene - OMIM - HGNC]
- PPP1R3F:protein phosphatase 1 regulatory subunit 3F [Gene - HGNC]
- PPEF1:protein phosphatase with EF-hand domain 1 [Gene - OMIM - HGNC]
- PLP2:proteolipid protein 2 [Gene - OMIM - HGNC]
- PUDP:pseudouridine 5'-phosphatase [Gene - OMIM - HGNC]
- PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
- PDK3:pyruvate dehydrogenase kinase 3 [Gene - OMIM - HGNC]
- RGN:regucalcin [Gene - OMIM - HGNC]
- RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
- RAI2:retinoic acid induced 2 [Gene - OMIM - HGNC]
- RS1:retinoschisin 1 [Gene - OMIM - HGNC]
- RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
- SHROOM2:shroom family member 2 [Gene - OMIM - HGNC]
- SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
- SMPX:small muscle protein X-linked [Gene - OMIM - HGNC]
- SNORA11:small nucleolar RNA, H/ACA box 11 [Gene - OMIM - HGNC]
- SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]
- SLC38A5:solute carrier family 38 member 5 [Gene - OMIM - HGNC]
- SLC9A7:solute carrier family 9 member A7 [Gene - OMIM - HGNC]
- SPACA5:sperm acrosome associated 5 [Gene - OMIM - HGNC]
- SPACA5B:sperm acrosome associated 5B [Gene - HGNC]
- SAT1:spermidine/spermine N1-acetyltransferase 1 [Gene - OMIM - HGNC]
- SMS:spermine synthase [Gene - OMIM - HGNC]
- SPIN2A:spindlin family member 2A [Gene - OMIM - HGNC]
- SPIN2B:spindlin family member 2B [Gene - OMIM - HGNC]
- SPIN3:spindlin family member 3 [Gene - HGNC]
- STS:steroid sulfatase [Gene - OMIM - HGNC]
- SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
- SRPX:sushi repeat containing protein X-linked [Gene - OMIM - HGNC]
- SYAP1:synapse associated protein 1 [Gene - HGNC]
- SYN1:synapsin I [Gene - OMIM - HGNC]
- SYP:synaptophysin [Gene - OMIM - HGNC]
- SYTL5:synaptotagmin like 5 [Gene - HGNC]
- TXLNG:taxilin gamma [Gene - OMIM - HGNC]
- TSPAN7:tetraspanin 7 [Gene - OMIM - HGNC]
- TMSB4X:thymosin beta 4 X-linked [Gene - OMIM - HGNC]
- TLR7:toll like receptor 7 [Gene - OMIM - HGNC]
- TLR8:toll like receptor 8 [Gene - OMIM - HGNC]
- TRAPPC2:trafficking protein particle complex subunit 2 [Gene - OMIM - HGNC]
- TCEANC:transcription elongation factor A N-terminal and central domain containing [Gene - OMIM - HGNC]
- TFE3:transcription factor binding to IGHM enhancer 3 [Gene - OMIM - HGNC]
- TBL1X:transducin beta like 1 X-linked [Gene - OMIM - HGNC]
- TIMM17B:translocase of inner mitochondrial membrane 17B [Gene - OMIM - HGNC]
- TMEM47:transmembrane protein 47 [Gene - OMIM - HGNC]
- TRO:trophinin [Gene - OMIM - HGNC]
- UBQLN2:ubiquilin 2 [Gene - OMIM - HGNC]
- UBA1:ubiquitin like modifier activating enzyme 1 [Gene - OMIM - HGNC]
- USP11:ubiquitin specific peptidase 11 [Gene - OMIM - HGNC]
- USP27X:ubiquitin specific peptidase 27 X-linked [Gene - OMIM - HGNC]
- USP51:ubiquitin specific peptidase 51 [Gene - HGNC]
- USP9X:ubiquitin specific peptidase 9 X-linked [Gene - OMIM - HGNC]
- UXT:ubiquitously expressed prefoldin like chaperone [Gene - OMIM - HGNC]
- VCX2:variable charge X-linked 2 [Gene - OMIM - HGNC]
- VCX3A:variable charge X-linked 3A [Gene - OMIM - HGNC]
- VCX3B:variable charge X-linked 3B [Gene - OMIM - HGNC]
- VCX:variable charge X-linked [Gene - OMIM - HGNC]
- VEGFD:vascular endothelial growth factor D [Gene - OMIM - HGNC]
- ZRSR2:zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [Gene - OMIM - HGNC]
- ZXDB:zinc finger X-linked duplicated B [Gene - OMIM - HGNC]
- ZNF157:zinc finger protein 157 [Gene - OMIM - HGNC]
- ZNF182:zinc finger protein 182 [Gene - OMIM - HGNC]
- ZNF41:zinc finger protein 41 [Gene - OMIM - HGNC]
- ZNF630:zinc finger protein 630 [Gene - OMIM - HGNC]
- ZNF674:zinc finger protein 674 [Gene - OMIM - HGNC]
- ZNF81:zinc finger protein 81 [Gene - OMIM - HGNC]
- ZFX:zinc finger protein X-linked [Gene - OMIM - HGNC]
- Variant type:
- copy number loss
- Cytogenetic location:
- Xp22.33-11.21
- Genomic location:
- ChrX: 168546 - 57841304 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)
Condition(s)
- Name:
- Turner syndrome (MX)
- Synonyms:
- Ullrich-Turner syndrome; Bonnevie-Ulrich syndrome; Schereshevkii Turner Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019499; MedGen: C0041408
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV002568934 | Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | no assertion criteria provided | Pathogenic | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568934.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Mar 26, 2023