ClinGen Dosage Sensitivity Curation Page

POLL

Curation Status: Complete

Links

id: ISCA-8898
Date last evaluated: 2011-12-21
Issue Type: ClinGen Gene Curation
Gene type: protein-coding
ClinGen: Search for information about POLL at clinicalgenome.org
Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/27343
OMIM: https://omim.org/entry/606343
ClinGen Haploinsufficiency Score: 0
ClinGen Triplosensitivity Score: 0

Location Information

10q24.32
GRCh37/hg19 chr10: 103,338,639-103,348,027
View: NCBI | Ensembl | UCSC
GRCh38/hg38 chr10: 101,578,882-101,588,319
View: NCBI | Ensembl | UCSC

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Genome View
Evidence for Haploinsufficiency Phenotypes
Evidence for Triplosensitive Phenotypes

Select assembly: (NC_000010.10)

Haploinsufficiency score: 0
Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity score: 0
Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Triplosensitivity phenotype: SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

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.