ClinGen Dosage Sensitivity Curation Page

POLL

  • Curation Status: Complete

Location Information

  • 10q24.32
  • GRCh37/hg19 chr10: 103,338,639-103,348,027
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr10: 101,578,882-101,588,270
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

Tandem duplications at 10q24 are associated with split hand/foot malformation 3 (SHFM3) syndrome: PMID: 12913067 De Mollerat (2003): This is a report of 7 patients with SHFM3 (split hand/foot malformation 3) who all had a tandem duplication which included LBX1, BTRC, and POLL, and had a breakpoint within FBXW4 (DAC). PMID: 19584065 Dimitrov (2010): This paper include 6 patients with both syndromic and non-syndromic SHFM3 who have duplications at 10q24 of varying size, which include POLL. They comment on genotype-phenotype correlations. PMID: 16691619 Lyle (2006): Report of 2 families with SHFM3 with minimal 325 kb duplication that includes only BTRC and POLL.