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GRCh38/hg38 Xp11.22(chrX:50770594-51083187)x2 AND Intellectual disability

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 10, 2024
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:
RCV004776419.1

Allele description [Variation Report for GRCh38/hg38 Xp11.22(chrX:50770594-51083187)x2]

GRCh38/hg38 Xp11.22(chrX:50770594-51083187)x2

Genes:
LOC130068288:ATAC-STARR-seq lymphoblastoid silent region 20850 [Gene]
LOC121627972:Sharpr-MPRA regulatory region 11230 [Gene]
BMP15:bone morphogenetic protein 15 [Gene - OMIM - HGNC]
SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp11.22
Genomic location:
ChrX: 50770594 - 51083187 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 Xp11.22(chrX:50770594-51083187)x2
HGVS:

    Condition(s)

    Name:
    Intellectual disability
    Synonyms:
    Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
    Identifiers:
    MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV005387741Research Institute of Medical Genetics, Tomsk National Research Medical Center of Russian Academy of Sciences
    no assertion criteria provided
    		Likely pathogenic
    (Oct 10, 2024)     		unknownresearch

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyesnot providednot providednot providednot providednot providedresearch

    Details of each submission

    From Research Institute of Medical Genetics, Tomsk National Research Medical Center of Russian Academy of Sciences, SCV005387741.1

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

    Last Updated: Nov 10, 2024