GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 27, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000790583.1

Allele description [Variation Report for GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1]

GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1

Genes:

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]
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]
GPR143:G protein-coupled receptor 143 [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]
GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
GRIPAP1:GRIP1 associated protein 1 [Gene - OMIM - HGNC]
H2AP:H2A.P histone [Gene - 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]
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]
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]
PAGE4:PAGE family member 4 [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]
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]
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]
SSX1:SSX family member 1 [Gene - OMIM - 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]
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]
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]
WWC3:WWC family member 3 [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]
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]
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]
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]
FTHL17:ferritin heavy chain like 17 [Gene - OMIM - HGNC]
FOXP3:forkhead box P3 [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]
INE1:inactivation escape 1 [Gene - OMIM - HGNC]
INE2:inactivation escape 2 [Gene - OMIM - 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]
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]
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]
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]
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]
STS:steroid sulfatase [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]
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]
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]
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:

Xp22.33-11.22

Genomic location:

ChrX: 60814 - 50519984 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1

HGVS:

NC_000023.10:g.(?_60814)_(50519984_?)del

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

Recent activity

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Bacillus safensis strain NRRL B-01489 contig_0000018, whole genome shotgun seque...
Bacillus safensis strain NRRL B-01489 contig_0000018, whole genome shotgun sequence
gi|2410423013|ref|NZ_JAKOBN01000001 gnl|WGS:NZ_JAKOBN01|contig_0000018

Nucleotide
Bacillus safensis strain BD-530 BD-530_S1259_genome_contig_0000005, whole genome...
Bacillus safensis strain BD-530 BD-530_S1259_genome_contig_0000005, whole genome shotgun sequence
gi|2662624357|ref|NZ_JARLXQ01000000 gnl|WGS:NZ_JARLXQ01|BD-530_S1259_genome_contig_0000005

Nucleotide
Rhabdochromatium marinum strain DSM 5261 scaffold0199, whole genome shotgun sequ...
Rhabdochromatium marinum strain DSM 5261 scaffold0199, whole genome shotgun sequence
gi|1956326356|ref|NZ_NRRS01000199.1 |WGS:NZ_NRRS01|scaffold0199

Nucleotide
Rhabdochromatium marinum strain DSM 5261 scaffold0206, whole genome shotgun sequ...
Rhabdochromatium marinum strain DSM 5261 scaffold0206, whole genome shotgun sequence
gi|1956326369|ref|NZ_NRRS01000206.1 |WGS:NZ_NRRS01|scaffold0206

Nucleotide
Rhabdochromatium marinum strain DSM 5261 scaffold0201, whole genome shotgun sequ...
Rhabdochromatium marinum strain DSM 5261 scaffold0201, whole genome shotgun sequence
gi|1956326360|ref|NZ_NRRS01000201.1 |WGS:NZ_NRRS01|scaffold0201

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000929935	Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington	criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)	Pathogenic (Sep 27, 2018)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23825392, 27685952, 12942498, 20081420 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000929935

Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington

criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)

Pathogenic
(Sep 27, 2018)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome.

Bondy C, Bakalov VK, Cheng C, Olivieri L, Rosing DR, Arai AE.

J Med Genet. 2013 Oct;50(10):662-5. doi: 10.1136/jmedgenet-2013-101720. Epub 2013 Jul 3.

PubMed [citation]

PMID:: 23825392
PMCID:: PMC3786649

A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.

Lara DA, Ethen MK, Canfield MA, Nembhard WN, Morris SA.

Congenit Heart Dis. 2017 Jan;12(1):105-112. doi: 10.1111/chd.12413. Epub 2016 Sep 29.

PubMed [citation]

PMID:: 27685952
PMCID:: PMC7321826

See all PubMed Citations (4)

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000929935.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Mar 26, 2023

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