GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 16, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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

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

Record status:: current
Accession:: RCV000512204.3

Allele description [Variation Report for GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3]

GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3

Genes:

ARSD-AS1:ARSD antisense RNA 1 [Gene - 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]
DDX53:DEAD-box helicase 53 [Gene - OMIM - HGNC]
POLA1:DNA polymerase alpha 1, catalytic subunit [Gene - OMIM - HGNC]
EGFL6:EGF like domain multiple 6 [Gene - OMIM - HGNC]
FANCB:FA complementation group B [Gene - OMIM - HGNC]
FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]
GPR143:G protein-coupled receptor 143 [Gene - OMIM - HGNC]
MAGEB17:MAGE family member B17 [Gene - OMIM - HGNC]
MAP7D2:MAP7 domain containing 2 [Gene - HGNC]
MSL3:MSL complex subunit 3 [Gene - OMIM - HGNC]
NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
OFD1:OFD1 centriole and centriolar satellite protein [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]
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]
SUPT20HL1:SUPT20H like 1 [Gene - HGNC]
SUPT20HL2:SUPT20H like 2 [Gene - HGNC]
SCML1:Scm polycomb group protein like 1 [Gene - OMIM - HGNC]
SCML2:Scm polycomb group protein like 2 [Gene - OMIM - HGNC]
WWC3:WWC family member 3 [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]
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]
CA5B:carbonic anhydrase 5B [Gene - OMIM - HGNC]
CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]
CXorf58:chromosome X open reading frame 58 [Gene - HGNC]
CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
CNKSR2:connector enhancer of kinase suppressor of Ras 2 [Gene - OMIM - HGNC]
CDKL5:cyclin dependent kinase like 5 [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]
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]
GRPR:gastrin releasing peptide receptor [Gene - OMIM - HGNC]
GEMIN8:gem nuclear organelle associated protein 8 [Gene - OMIM - HGNC]
GLRA2:glycine receptor alpha 2 [Gene - OMIM - HGNC]
GYG2:glycogenin 2 [Gene - OMIM - HGNC]
GPM6B:glycoprotein M6B [Gene - OMIM - HGNC]
HCCS:holocytochrome c synthase [Gene - OMIM - HGNC]
INE2:inactivation escape 2 [Gene - OMIM - HGNC]
KLHL15:kelch like family member 15 [Gene - OMIM - HGNC]
KLHL34:kelch like family member 34 [Gene - HGNC]
MXRA5:matrix remodeling associated 5 [Gene - OMIM - HGNC]
MBTPS2:membrane bound transcription factor peptidase, site 2 [Gene - OMIM - HGNC]
MID1:midline 1 [Gene - OMIM - HGNC]
MAP3K15:mitogen-activated protein kinase kinase kinase 15 [Gene - OMIM - HGNC]
MOSPD2:motile sperm domain containing 2 [Gene - OMIM - HGNC]
NLGN4X:neuroligin 4 X-linked [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]
PRKX:protein kinase cAMP-dependent X-linked catalytic subunit [Gene - OMIM - HGNC]
PPEF1:protein phosphatase with EF-hand domain 1 [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]
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]
SMPX:small muscle protein X-linked [Gene - OMIM - HGNC]
SAT1:spermidine/spermine N1-acetyltransferase 1 [Gene - OMIM - HGNC]
SMS:spermine synthase [Gene - OMIM - HGNC]
STS:steroid sulfatase [Gene - OMIM - HGNC]
SYAP1:synapse associated protein 1 [Gene - HGNC]
TXLNG:taxilin gamma [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]
TBL1X:transducin beta like 1 X-linked [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]
ZFX:zinc finger protein X-linked [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xp22.33-22.11

Genomic location:

ChrX: 168546 - 24780527 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3

HGVS:

Links:

dbVar: nssv13638597; dbVar: nsv2775261

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000585488	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Dec 16, 2014)	unknown	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

SCV000585488

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Dec 16, 2014)

unknown

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
human	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 1, SCV000585488.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	1	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	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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