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  2. Bone Marrow Failure
  3. POLE
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Bone Marrow Failure

Gene: POLE

Red List (low evidence)
POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 11 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

2 sibs with compound heterozygous high impact variants with combined features of previously reported phenotypes (IMAGe and FILS) with this gene and new feature of congenital anaemia that evolved into myelodysplastic syndrome. Both had growth failure and epicanthic folds. Some functional work on human cells and a fish model to provide evidence of role in haematopoiesis.
Sources: Literature
Created: 2 Nov 2023, 1:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0002254 syndromic disease

Publications

Created: 2 Nov 2023, 1:42 a.m.

Panel version: 1.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • MONDO:0002254 syndromic disease
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

2 Nov 2023, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

2 Nov 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: POLE was added gene: POLE was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to PMID: 37833059 Phenotypes for gene: POLE were set to MONDO:0002254 syndromic disease Review for gene: POLE was set to RED