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GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
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:
RCV000240433.2

Allele description [Variation Report for GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1]

GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1

Genes:
  • ELOVL2:ELOVL fatty acid elongase 2 [Gene - OMIM - HGNC]
  • GMDS:GDP-mannose 4,6-dehydratase [Gene - OMIM - HGNC]
  • HUS1B:HUS1 checkpoint clamp component B [Gene - OMIM - HGNC]
  • LYRM4:LYR motif containing 4 [Gene - OMIM - HGNC]
  • NQO2:N-ribosyldihydronicotinamide:quinone dehydrogenase 2 [Gene - OMIM - HGNC]
  • PAK1IP1:PAK1 interacting protein 1 [Gene - OMIM - HGNC]
  • PXDC1:PX domain containing 1 [Gene - HGNC]
  • RIOK1:RIO kinase 1 [Gene - OMIM - HGNC]
  • WRNIP1:WRN helicase interacting protein 1 [Gene - OMIM - HGNC]
  • BLOC1S5:biogenesis of lysosomal organelles complex 1 subunit 5 [Gene - OMIM - HGNC]
  • BPHL:biphenyl hydrolase like [Gene - OMIM - HGNC]
  • BMP6:bone morphogenetic protein 6 [Gene - OMIM - HGNC]
  • CAGE1:cancer antigen 1 [Gene - OMIM - HGNC]
  • CDYL:chromodomain Y like [Gene - OMIM - HGNC]
  • C6orf201:chromosome 6 open reading frame 201 [Gene - HGNC]
  • C6orf52:chromosome 6 open reading frame 52 [Gene - HGNC]
  • F13A1:coagulation factor XIII A chain [Gene - OMIM - HGNC]
  • DSP:desmoplakin [Gene - OMIM - HGNC]
  • DUSP22:dual specificity phosphatase 22 [Gene - OMIM - HGNC]
  • ERVFRD-1:endogenous retrovirus group FRD member 1, envelope [Gene - OMIM - HGNC]
  • ECI2:enoyl-CoA delta isomerase 2 [Gene - OMIM - HGNC]
  • EEF1E1:eukaryotic translation elongation factor 1 epsilon 1 [Gene - OMIM - HGNC]
  • EXOC2:exocyst complex component 2 [Gene - OMIM - HGNC]
  • FAM217A:family with sequence similarity 217 member A [Gene - HGNC]
  • FAM50B:family with sequence similarity 50 member B [Gene - OMIM - HGNC]
  • FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
  • FOXF2:forkhead box F2 [Gene - OMIM - HGNC]
  • FOXQ1:forkhead box Q1 [Gene - OMIM - HGNC]
  • GCM2:glial cells missing transcription factor 2 [Gene - OMIM - HGNC]
  • GCNT2:glucosaminyl (N-acetyl) transferase 2 (I blood group) [Gene - OMIM - HGNC]
  • HULC:hepatocellular carcinoma up-regulated long non-coding RNA [Gene - OMIM - HGNC]
  • IRF4:interferon regulatory factor 4 [Gene - OMIM - HGNC]
  • LINC01600:long intergenic non-protein coding RNA 1600 [Gene - HGNC]
  • LY86:lymphocyte antigen 86 [Gene - OMIM - HGNC]
  • MAK:male germ cell associated kinase [Gene - OMIM - HGNC]
  • MYLK4:myosin light chain kinase family member 4 [Gene - HGNC]
  • NEDD9:neural precursor cell expressed, developmentally down-regulated 9 [Gene - OMIM - HGNC]
  • NRN1:neuritin 1 [Gene - OMIM - HGNC]
  • OFCC1:orofacial cleft 1 candidate 1 [Gene - OMIM - HGNC]
  • FARS2:phenylalanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • PRPF4B:pre-mRNA processing factor 4B [Gene - OMIM - HGNC]
  • PSMG4:proteasome assembly chaperone 4 [Gene - OMIM - HGNC]
  • PPP1R3G:protein phosphatase 1 regulatory subunit 3G [Gene - OMIM - HGNC]
  • RREB1:ras responsive element binding protein 1 [Gene - OMIM - HGNC]
  • RIPK1:receptor interacting serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • RPP40:ribonuclease P/MRP subunit p40 [Gene - OMIM - HGNC]
  • SERPINB1:serpin family B member 1 [Gene - OMIM - HGNC]
  • SERPINB6:serpin family B member 6 [Gene - OMIM - HGNC]
  • SERPINB9:serpin family B member 9 [Gene - OMIM - HGNC]
  • SSR1:signal sequence receptor subunit 1 [Gene - OMIM - HGNC]
  • SMIM13:small integral membrane protein 13 [Gene - HGNC]
  • SNRNP48:small nuclear ribonucleoprotein U11/U12 subunit 48 [Gene - HGNC]
  • SLC22A23:solute carrier family 22 member 23 [Gene - OMIM - HGNC]
  • SLC35B3:solute carrier family 35 member B3 [Gene - OMIM - HGNC]
  • SYCP2L:synaptonemal complex protein 2 like [Gene - OMIM - HGNC]
  • TFAP2A:transcription factor AP-2 alpha [Gene - OMIM - HGNC]
  • TMEM14B:transmembrane protein 14B [Gene - OMIM - HGNC]
  • TMEM14C:transmembrane protein 14C [Gene - OMIM - HGNC]
  • TMEM170B:transmembrane protein 170B [Gene - HGNC]
  • TUBB2A:tubulin beta 2A class IIa [Gene - OMIM - HGNC]
  • TUBB2B:tubulin beta 2B class IIb [Gene - OMIM - HGNC]
  • KU-MEL-3:uncharacterized LOC497048 [Gene]
Variant type:
copy number loss
Cytogenetic location:
6p25.3-24.1
Genomic location:
Chr6: 204009 - 11608587 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1
HGVS:
NC_000006.11:g.(?_204009)_(11608587_?)del

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000298466GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Jan 20, 2016)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000298466.3

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

Last Updated: Oct 14, 2023