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GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4 AND Cat eye syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV002221456.2

Allele description [Variation Report for GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4]

GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)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]
  • GAB4:GRB2 associated binding protein family member 4 [Gene - 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]
  • PEX26:peroxisomal biogenesis factor 26 [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: 16888899 - 18644241 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4
HGVS:

    Condition(s)

    Name:
    Cat eye syndrome (CES)
    Synonyms:
    Schmid-Fraccaro syndrome; Chromosome 22 partial tetrasomy; INV DUP(22)(Q11)
    Identifiers:
    MONDO: MONDO:0007276; MedGen: C0265493; Orphanet: 195; OMIM: 115470

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002498750Shanghai First Maternity and Infant Hospital, Tongji University
    no assertion criteria provided
    		Pathogenicde novoclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Shanghai First Maternity and Infant Hospital, Tongji University, SCV002498750.1

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

    Last Updated: Oct 29, 2022