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GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3 AND Intellectual disability, X-linked 58

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001787688.1

Allele description [Variation Report for GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3]

GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3

Gene:
TSPAN7:tetraspanin 7 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp11.4
Genomic location:
ChrX: 38480090 - 38634614 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3
HGVS:

    Condition(s)

    Name:
    Intellectual disability, X-linked 58 (XLID58)
    Synonyms:
    INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58
    Identifiers:
    MONDO: MONDO:0010266; MedGen: C1846174; Orphanet: 777; OMIM: 300210

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002030762GenomeConnect - Brain Gene Registry
    no classification provided
    		not providedunknownphenotyping only

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

    Details of each submission

    From GenomeConnect - Brain Gene Registry, SCV002030762.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedphenotyping onlynot provided

    Description

    Variant interpreted as Uncertain significance and reported on 03-17-2016 by Lab or GTR ID 505219. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR ) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Aug 5, 2023