POLL |
- 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)