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Limb disorders

Gene: POLL

Red List (low evidence)

POLL (DNA polymerase lambda)
EnsemblGeneIds (GRCh38): ENSG00000166169
EnsemblGeneIds (GRCh37): ENSG00000166169
OMIM: 606343, Gene2Phenotype
POLL is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Genomics England clinical team notes - Agree with red rating. Part of the critical region of a duplication identified in split hand/foot malformation; no direct evidence this is the causative gene
Created: 9 Sep 2018, 7:52 p.m.
CNV tag added
Created: 5 Apr 2018, 2:03 p.m.
Comment on list classification: Keeping red rating as it appears that phenotype is due to copy number variation (duplication) rather than SNVs. Also some evidence suggesting that although POLL is part of the duplicated regions in SHFM3 patients, it might be duplication of BTRC which is causative.
Created: 5 Apr 2018, 2:02 p.m.

Ellen McDonagh (Genomics England Curator)

Not associated with a disease in OMIM or Gene2Phenotype. PMID: 29263051 - two Chinese patients with Split hand/foot malformation with a 534kb microduplication at 10q24 encompassing TLX1, LBX1, BTRC and POLL, and a 600kb duplication with TLX1, LBX1, BTRC, POLL, and FBXW4 located. PMID: 28777841 (article in Chinese, abstract available in English) - 3 families with Split hand/foot malformationMicroarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. PMID: 27600068 - A 514 kb gain at 10q24.31-q24.32 (chr10:102,962,134-103,476,346, hg19) was identified using 6.0 Single nucleotide polymorphism (SNP) microarray, resulting in the duplication of nine genes, including BTRC and FBXW4. A detailed systematic review of literature and mapping of breakpoints using microarray data from all reported cases in PubMed and DECIPHER were conducted, and exon 1 of BTRC gene was identified as the critical region responsible for the SHFM3 phenotype. PMID: 16691619 - use different techniques to narrow down the SHFM3 (10q24) to a minimal 325 kb duplication containing two genes BTRC and POLL. Expression analysis of 13 candidate genes within and flanking the duplicated region shows that BTRC (present in three copies) and SUFU (present in two copies) are overexpressed in SHFM3 patients compared to controls.
Created: 5 Apr 2018, 10:01 a.m.

Mode of inheritance
Unknown

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Tags
cnv
OMIM
606343
Clinvar variants
Variants in POLL
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Not associated with a disease

18 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: poll has been classified as Red List (Low Evidence).

5 Apr 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POLL was added to Limb disorders panel. Sources: Literature

5 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

POLL was created by Ellen McDonagh