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GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2022
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:
RCV002053135.3

Allele description [Variation Report for GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)]

GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)

Genes:
  • AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]
  • ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]
  • ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
  • ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
  • CXCR3:C-X-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
  • CITED1:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 [Gene - OMIM - HGNC]
  • ARHGEF9:Cdc42 guanine nucleotide exchange factor 9 [Gene - OMIM - HGNC]
  • DMRTC1:DMRT like family C1 [Gene - OMIM - HGNC]
  • DMRTC1B:DMRT like family C1B [Gene - HGNC]
  • ERCC6L:ERCC excision repair 6 like, spindle assembly checkpoint helicase [Gene - OMIM - HGNC]
  • FTX:FTX transcript, XIST regulator [Gene - OMIM - HGNC]
  • GPR174:G protein-coupled receptor 174 [Gene - OMIM - HGNC]
  • JPX:JPX transcript, XIST activator [Gene - OMIM - HGNC]
  • LAS1L:LAS1 like ribosome biogenesis factor [Gene - OMIM - HGNC]
  • MAGEE1:MAGE family member E1 [Gene - OMIM - HGNC]
  • MAGEE2:MAGE family member E2 [Gene - OMIM - HGNC]
  • NALF2:NALCN channel auxiliary factor 2 [Gene - HGNC]
  • NHSL2:NHS like 2 [Gene - OMIM - HGNC]
  • OGT:O-linked N-acetylglucosamine (GlcNAc) transferase [Gene - OMIM - HGNC]
  • OTUD6A:OTU deubiquitinase 6A [Gene - OMIM - HGNC]
  • P2RY10:P2Y receptor family member 10 [Gene - OMIM - HGNC]
  • PDZD11:PDZ domain containing 11 [Gene - OMIM - HGNC]
  • RAB41:RAB41, member RAS oncogene family [Gene - HGNC]
  • STARD8:StAR related lipid transfer domain containing 8 [Gene - OMIM - HGNC]
  • TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
  • TAF9B:TATA-box binding protein associated factor 9b [Gene - OMIM - HGNC]
  • TSIX:TSIX transcript, XIST antisense RNA [Gene - OMIM - HGNC]
  • VSIG4:V-set and immunoglobulin domain containing 4 [Gene - OMIM - HGNC]
  • XIST:X inactive specific transcript [Gene - OMIM - HGNC]
  • YIPF6:Yip1 domain family member 6 [Gene - OMIM - HGNC]
  • AWAT1:acyl-CoA wax alcohol acyltransferase 1 [Gene - OMIM - HGNC]
  • AWAT2:acyl-CoA wax alcohol acyltransferase 2 [Gene - OMIM - HGNC]
  • AR:androgen receptor [Gene - OMIM - HGNC]
  • ASB12:ankyrin repeat and SOCS box containing 12 [Gene - OMIM - HGNC]
  • ARR3:arrestin 3 [Gene - OMIM - HGNC]
  • CDX4:caudal type homeobox 4 [Gene - OMIM - HGNC]
  • CXorf49:chromosome X open reading frame 49 [Gene - HGNC]
  • CXorf49B:chromosome X open reading frame 49B [Gene - HGNC]
  • CXorf65:chromosome X open reading frame 65 [Gene - HGNC]
  • CHIC1:cysteine rich hydrophobic domain 1 [Gene - OMIM - HGNC]
  • CYSLTR1:cysteinyl leukotriene receptor 1 [Gene - OMIM - HGNC]
  • COX7B:cytochrome c oxidase subunit 7B [Gene - OMIM - HGNC]
  • DGAT2L6:diacylglycerol O-acyltransferase 2 like 6 [Gene - OMIM - HGNC]
  • DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]
  • EDA2R:ectodysplasin A2 receptor [Gene - OMIM - HGNC]
  • EDA:ectodysplasin A [Gene - OMIM - HGNC]
  • EFNB1:ephrin B1 [Gene - OMIM - HGNC]
  • FGF16:fibroblast growth factor 16 [Gene - OMIM - HGNC]
  • FOXO4:forkhead box O4 [Gene - OMIM - HGNC]
  • GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
  • GCNA:germ cell nuclear acidic peptidase [Gene - OMIM - HGNC]
  • GDPD2:glycerophosphodiester phosphodiesterase domain containing 2 [Gene - OMIM - HGNC]
  • HEPH:hephaestin [Gene - OMIM - HGNC]
  • HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
  • IGBP1:immunoglobulin binding protein 1 [Gene - OMIM - HGNC]
  • ITM2A:integral membrane protein 2A [Gene - OMIM - HGNC]
  • ITGB1BP2:integrin subunit beta 1 binding protein 2 [Gene - OMIM - HGNC]
  • IL2RG:interleukin 2 receptor subunit gamma [Gene - OMIM - HGNC]
  • KIF4A:kinesin family member 4A [Gene - OMIM - HGNC]
  • LPAR4:lysophosphatidic acid receptor 4 [Gene - OMIM - HGNC]
  • MAGT1:magnesium transporter 1 [Gene - OMIM - HGNC]
  • MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
  • MIR223:microRNA 223 [Gene - OMIM - HGNC]
  • MSN:moesin [Gene - OMIM - HGNC]
  • MTMR8:myotubularin related protein 8 [Gene - OMIM - HGNC]
  • NEXMIF:neurite extension and migration factor [Gene - OMIM - HGNC]
  • NLGN3:neuroligin 3 [Gene - OMIM - HGNC]
  • NONO:non-POU domain containing octamer binding [Gene - OMIM - HGNC]
  • NAP1L2:nucleosome assembly protein 1 like 2 [Gene - OMIM - HGNC]
  • OPHN1:oligophrenin 1 [Gene - OMIM - HGNC]
  • PIN4:peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [Gene - OMIM - HGNC]
  • PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
  • PGAM4:phosphoglycerate mutase family member 4 [Gene - OMIM - HGNC]
  • PHKA1:phosphorylase kinase regulatory subunit alpha 1 [Gene - OMIM - HGNC]
  • PABPC1L2A:poly(A) binding protein cytoplasmic 1 like 2A [Gene - HGNC]
  • PABPC1L2B:poly(A) binding protein cytoplasmic 1 like 2B [Gene - HGNC]
  • PBDC1:polysaccharide biosynthesis domain containing 1 [Gene - HGNC]
  • PJA1:praja ring finger ubiquitin ligase 1 [Gene - OMIM - HGNC]
  • P2RY4:pyrimidinergic receptor P2Y4 [Gene - OMIM - HGNC]
  • RTL3:retrotransposon Gag like 3 [Gene - HGNC]
  • RTL5:retrotransposon Gag like 5 [Gene - HGNC]
  • RPS4X:ribosomal protein S4 X-linked [Gene - OMIM - HGNC]
  • RLIM:ring finger protein, LIM domain interacting [Gene - OMIM - HGNC]
  • SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
  • SLC7A3:solute carrier family 7 member 3 [Gene - OMIM - HGNC]
  • SNX12:sorting nexin 12 [Gene - OMIM - HGNC]
  • SPIN4:spindlin family member 4 [Gene - OMIM - HGNC]
  • TEX11:testis expressed 11 [Gene - OMIM - HGNC]
  • UPRT:uracil phosphoribosyltransferase homolog [Gene - OMIM - HGNC]
  • ZC4H2:zinc finger C4H2-type containing [Gene - OMIM - HGNC]
  • ZC3H12B:zinc finger CCCH-type containing 12B [Gene - OMIM - HGNC]
  • ZCCHC13:zinc finger CCHC-type containing 13 [Gene - HGNC]
  • ZDHHC15:zinc finger DHHC-type palmitoyltransferase 15 [Gene - OMIM - HGNC]
  • ZMYM3:zinc finger MYM-type containing 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq11.1-21.1
Genomic location:
ChrX: 61877278 - 79123671 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002319931ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)
Pathogenic
(Mar 1, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002319931.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024