Gene "CELSR2"
Found 2 records
Gene information
Gene symbol:
CELSR2
See related:
Ensembl: ENSG00000143126, Gene ID: 1952
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered plasma progranulin levels(1) ,Altered GRN plasma expression(1)  
Details：
  • Variant 1:
    SORT1:c.*1859C>T
    Gene:
    CELSR2
    Genomic location:
    chr1:109818530
    dbSNP ID:
    rs646776
    Alias:
    CELSR2:rs646776, SORT1:c.*1859C>T
    Target disease:
    Grn-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions(DOID_0060672)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered plasma progranulin levels 
    Evidence:
    From review article 
    Effect:
    The rs646776 SNP near SORT1, previously linked to SORT1 expression levels as an expression quantitative trait locus (eQTL), has also been reported to associate with plasma progranulin levels
    Reference:
    PMID29977663
    Title:
    Genetic Modifiers in Neurodegeneration.
    Species studied:
    Human
    Abstract:
    To review the evidence for genetic modifier effects in the neurodegenerative diseases Huntington's Disease (HD), Frontotemporal Lobar Degeneration (FTLD), Alzheimer's Disease (AD), and Parkinson's Disease (PD).
  • Variant 2:
    SORT1:c.*1859C>T
    Gene:
    CELSR2
    Genomic location:
    chr1:109818530
    dbSNP ID:
    rs646776
    Alias:
    CELSR2:rs646776, SORT1:c.*1859C>T
    Target disease:
    Grn-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions(DOID_0060672)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered GRN plasma expression 
    Evidence:
    From review article 
    Effect:
    rs646776 C allele associated with decreased GRN plasma expression
    Reference:
    PMID29977663
    Title:
    Genetic Modifiers in Neurodegeneration.
    Species studied:
    Human
    Abstract:
    To review the evidence for genetic modifier effects in the neurodegenerative diseases Huntington's Disease (HD), Frontotemporal Lobar Degeneration (FTLD), Alzheimer's Disease (AD), and Parkinson's Disease (PD).