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  2. Microcephaly
  3. POLE
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Microcephaly

Gene: POLE

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: The association with microcephaly relates to IMAGE-I syndrome.
Created: 10 Nov 2020, 6:15 a.m. | Last Modified: 10 Nov 2020, 6:15 a.m.
Panel Version: 0.498
Created: 10 Nov 2020, 6:15 a.m.
Last Modified: 10 Nov 2020, 6:15 a.m.
Panel version: 0.498

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30503519 - microcephaly reported in multiple patients with biallelic LOF variants
Sources: Literature
Created: 10 Nov 2020, 1:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FILS syndrome 615139; IMAGE-I syndrome 618336

Publications

Created: 10 Nov 2020, 1:21 a.m.

Panel version: 0.496

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • IMAGE-I syndrome, MIM# 618336
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pole has been classified as Green List (High Evidence).

10 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLE were changed from FILS syndrome 615139; IMAGE-I syndrome 618336 to IMAGE-I syndrome, MIM# 618336

10 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pole has been classified as Green List (High Evidence).

10 Nov 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: POLE was added gene: POLE was added to Microcephaly. Sources: Literature Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to PMID: 30503519 Phenotypes for gene: POLE were set to FILS syndrome 615139; IMAGE-I syndrome 618336 Review for gene: POLE was set to GREEN