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    DEL15Q11.2 Chromosome 15q11.2 deletion syndrome [ Homo sapiens (human) ]

    Gene ID: 102997063, updated on 31-Aug-2024

    Summary

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    Official Symbol
    DEL15Q11.2provided by HGNC
    Official Full Name
    Chromosome 15q11.2 deletion syndromeprovided by HGNC
    Primary source
    MIM:615656
    Gene type
    unknown
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C15DELq11.2

    Genomic context

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    Location:
    15q11.2

    Bibliography

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    Related articles in PubMed

    1. 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia. Ulfarsson MO, et al. Transl Psychiatry, 2017 Apr 25. PMID 28440815, Free PMC Article
    2. A 15q11.2 microdeletion first identified in a pair of autistic monozygotic twins with regression. Zhang Y, et al. Psychiatr Genet, 2015 Feb. PMID 25419638, Free PMC Article
    3. Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies. Jähn JA, et al. Epilepsy Res, 2014 Jan. PMID 24246141

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study showed that although the 15q11.2 CNV alleles confer mirror effects on both brain structure and function, only the deletion affects cognition with large effect.
      Title: 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.
    2. This study indicates that the 15q11.2 deletion is present in Chinese Han autism patients.
      Title: A 15q11.2 microdeletion first identified in a pair of autistic monozygotic twins with regression.
    3. In a pediatric cohort, recurrent microdeletions at 15q11.2, 15q13.3 and 16p13.11 are mainly associated with phenotypes related to idiopathic generalized epilepsies or related electroencephalography (EEG) patterns.
      Title: Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.
    Submit: New GeneRIF Correction

    Phenotypes

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    Associated conditions

    Description Tests
    Chromosome 15q11.2 deletion syndrome
    OMIM: 615656GeneReviews: Not available

    General gene information

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    Property

    • phenotype only

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