Variant: rs387907116 

    present in Gene: DIS3L2
    present in Chromosome: 2
    Position on Chromosome: 232263247
    Alleles of this Variant: G/A

rs387907116 in DIS3L2 gene and Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor PMID 22306653 2012 Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

PMID 23613427 2013 Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

PMID 28328139 2017 Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.

PMID 23486540 2013 Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.