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GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 30, 2017
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:
RCV000515599.3

Allele description [Variation Report for GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4]

GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4

Genes:
  • ATP6V1E1:ATPase H+ transporting V1 subunit E1 [Gene - OMIM - HGNC]
  • BCL2L13:BCL2 like 13 [Gene - OMIM - HGNC]
  • BID:BH3 interacting domain death agonist [Gene - OMIM - HGNC]
  • CECR2:CECR2 histone acetyl-lysine reader [Gene - OMIM - HGNC]
  • DGCR6:DiGeorge syndrome critical region gene 6 [Gene - OMIM - HGNC]
  • GAB4:GRB2 associated binding protein family member 4 [Gene - HGNC]
  • POTEH:POTE ankyrin domain family member H [Gene - OMIM - HGNC]
  • XKR3:XK related 3 [Gene - OMIM - HGNC]
  • ADA2:adenosine deaminase 2 [Gene - OMIM - HGNC]
  • CECR3:cat eye syndrome chromosome region, candidate 3 [Gene - HGNC]
  • CCT8L2:chaperonin containing TCP1 subunit 8 like 2 [Gene - HGNC]
  • HDHD5:haloacid dehalogenase like hydrolase domain containing 5 [Gene - HGNC]
  • IL17RA:interleukin 17 receptor A [Gene - OMIM - HGNC]
  • MICAL3:microtubule associated monooxygenase, calponin and LIM domain containing 3 [Gene - OMIM - HGNC]
  • OR11H1:olfactory receptor family 11 subfamily H member 1 [Gene - HGNC]
  • PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]
  • PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
  • SLC25A18:solute carrier family 25 member 18 [Gene - OMIM - HGNC]
  • TMEM121B:transmembrane protein 121B [Gene - HGNC]
  • TUBA8:tubulin alpha 8 [Gene - OMIM - HGNC]
  • USP18:ubiquitin specific peptidase 18 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.1-11.21
Genomic location:
Chr22: 16114244 - 18917748 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4
HGVS:
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000611681Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
    criteria provided, single submitter

    (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)    		Pathogenic
    (May 30, 2017)     		unknownclinical testing

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

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes11not providednot providednot providedclinical testing

    Citations

    PubMed

    Phenotypic variability of Cat-Eye syndrome.

    Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ.

    Genet Couns. 2001;12(1):23-34. Review.

    PubMed [citation]
    PMID:
    11332976

    Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

    Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB.

    Genet Couns. 2001;12(3):273-82. Review.

    PubMed [citation]
    PMID:
    11693792
    See all PubMed Citations (4)

    Details of each submission

    From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000611681.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (4)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providedAmniocytesnot provided1not provided1not provided

    Last Updated: Dec 11, 2022