• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
POLL (HGNC:9184) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
DNA polymerase lambda
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
20.37(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.06(Read more about gnomAD LOEUF score)
Cytoband
10q24.32
Genomic Coordinates
GRCh37/hg19: chr10:103338639-103348027 NCBI Ensembl UCSC
GRCh38/hg38: chr10:101578882-101588270 NCBI Ensembl UCSC
MANE Select Transcript
NM_001174084.2 ENST00000370162.8 (Read more about MANE Select)
Function
DNA polymerase that functions in several pathways of DNA repair (PubMed:11457865, PubMed:19806195, PubMed:20693240, PubMed:30250067). Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA (PubMed:11457865, PubMed:19806195). Also contributes to DNA double- strand break repair by non-homologous end joining and homologous recombination (PubMed:19806195, PubMed:20693240, PubMed:30250067). Has both template-dependent and template-independe... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8898
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
12/21/2011

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Disease:
  • split hand-foot malformation 3 Monarch
TS Evidence Comments:
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.

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)