RBMX, 23-BP DEL, EX9 AND Syndromic X-linked intellectual disability Shashi type

Clinical significance:Pathogenic (Last evaluated: Aug 19, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412659.4

Allele description [Variation Report for RBMX, 23-BP DEL, EX9]

RBMX, 23-BP DEL, EX9

Gene:
RBMX:RNA binding motif protein X-linked [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq26.3
Preferred name:
RBMX, 23-BP DEL, EX9
HGVS:
    Nucleotide change:
    23-BP DEL, EX9
    Links:
    OMIM: 300199.0001

    Condition(s)

    Name:
    Syndromic X-linked intellectual disability Shashi type
    Synonyms:
    Mental retardation X-linked syndromic 11; Shashi X-linked mental retardation syndrome; Mental retardation X-linked Shashi type
    Identifiers:
    MONDO: MONDO:0010277; MedGen: C1846145; Orphanet: 85286; OMIM: 300238

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000490219OMIMno assertion criteria providedPathogenic
    (Aug 19, 2021)
    germlineliterature only

    PubMed (2)
    [See all records that cite these PMIDs]

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

    Shashi V, Berry MN, Shoaf S, Sciote JJ, Goldstein D, Hart TC.

    Am J Hum Genet. 2000 Feb;66(2):469-79. Erratum in: Am J Hum Genet 2000 Apr;66(4):1472.

    PubMed [citation]
    PMID:
    10677307
    PMCID:
    PMC1288100

    The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.

    Shashi V, Xie P, Schoch K, Goldstein DB, Howard TD, Berry MN, Schwartz CE, Cronin K, Sliwa S, Allen A, Need AC.

    Clin Genet. 2015 Oct;88(4):386-90. doi: 10.1111/cge.12511. Epub 2014 Dec 5.

    PubMed [citation]
    PMID:
    25256757

    Details of each submission

    From OMIM, SCV000490219.4

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (2)

    Description

    In all affected males from a family with X-linked syndromic intellectual developmental disorder-11 (MRXS11; 300238) originally reported by Shashi et al. (2000), Shashi et al. (2015) identified a hemizygous 23-bp deletion in exon 9 of the RBMX gene, resulting in a frameshift and premature termination. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the Exome Sequencing Project database or in 1,300 controls. Functional studies and studies on patient cells were not performed.

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

    Last Updated: Aug 21, 2021

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