GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000052922.3

Allele description [Variation Report for GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1]

Genes:
  • C5:complement component 5 [Gene - OMIM]
  • STOM:stomatin [Gene - OMIM]
  • GGTA1P:glycoprotein, alpha-galactosyltransferase 1 pseudogene [Gene - OMIM]
  • GPR21:G protein-coupled receptor 21 [Gene - OMIM]
  • GSN:gelsolin [Gene - OMIM]
  • NDUFA8:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa [Gene - OMIM]
  • PDCL:phosducin-like [Gene - OMIM]
  • PTGS1:prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) [Gene - OMIM]
  • ZBTB6:zinc finger and BTB domain containing 6 [Gene - OMIM]
  • CNTRL:centriolin [Gene - OMIM]
  • RABGAP1:RAB GTPase activating protein 1 [Gene - OMIM]
  • OR1J4:olfactory receptor, family 1, subfamily J, member 4 [Gene]
  • LHX6:LIM homeobox 6 [Gene - OMIM]
  • OR1L3:olfactory receptor, family 1, subfamily L, member 3 [Gene]
  • OR1L1:olfactory receptor, family 1, subfamily L, member 1 [Gene]
  • OR1J2:olfactory receptor, family 1, subfamily J, member 2 [Gene]
  • RAB14:RAB14, member RAS oncogene family [Gene - OMIM]
  • RC3H2:ring finger and CCCH-type domains 2 [Gene - OMIM]
  • STRBP:spermatid perinuclear RNA binding protein [Gene - OMIM]
  • ZBTB26:zinc finger and BTB domain containing 26 [Gene]
  • DENND1A:DENN/MADD domain containing 1A [Gene - OMIM]
  • MRRF:mitochondrial ribosome recycling factor [Gene - OMIM]
  • RBM18:RNA binding motif protein 18 [Gene]
  • OR1L8:olfactory receptor, family 1, subfamily L, member 8 [Gene]
  • OR1N2:olfactory receptor, family 1, subfamily N, member 2 [Gene]
  • OR1N1:olfactory receptor, family 1, subfamily N, member 1 [Gene]
  • DAB2IP:DAB2 interacting protein [Gene - OMIM]
  • OR1Q1:olfactory receptor, family 1, subfamily Q, member 1 [Gene]
  • TTLL11:tubulin tyrosine ligase-like family, member 11 [Gene]
  • MORN5:MORN repeat containing 5 [Gene]
  • OR1L4:olfactory receptor, family 1, subfamily L, member 4 [Gene]
  • CRB2:crumbs family member 2 [Gene - OMIM]
  • OR1J1:olfactory receptor, family 1, subfamily J, member 1 [Gene]
  • OR1B1:olfactory receptor, family 1, subfamily B, member 1 [Gene]
  • OR1L6:olfactory receptor, family 1, subfamily L, member 6 [Gene]
  • OR5C1:olfactory receptor, family 5, subfamily C, member 1 [Gene]
  • OR1K1:olfactory receptor, family 1, subfamily K, member 1 [Gene]
Variant type:
copy number loss
Cytogenetic location:
9q33.2-33.3
Genomic location:
Preferred name:
GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1
HGVS:
  • NC_000009.11:g.(?_123700319)_(126231943_?)del
  • NC_000009.12:g.(?_120938041)_(123469664_?)del
Links:
dbVar: nsv531636
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000080276ISCA site 17classified by single submitterPathogenic
(Aug 12, 2011)
not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 17, SCV000080276.3

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Nov 29, 2014

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